{ "url": "https://dantelabs.com/tr/genes/atxn3", "gene": { "slug": "atxn3", "symbol": "ATXN3", "name": "ataxin 3", "hgnc": "HGNC:7106", "summary": null, "location": "14q32.12", "locusType": "gene with protein product", "aliases": [ "ATX3", "JOS" ], "previousSymbols": [ "SCA3", "MJD" ], "ensemblId": "ENSG00000066427", "entrezId": 4287, "omim": [ "607047" ], "uniprot": [ "P54252" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "14", "start": 92058552, "end": 92106582, "strand": "-", "ensemblTranscript": "ENST00000644486.2", "refseqTranscript": "NM_004993.6", "ensemblProtein": "ENSP00000496695.1", "refseqProtein": "NP_004984.2", "exons": [ { "start": 92058552, "end": 92064414 }, { "start": 92070935, "end": 92071053 }, { "start": 92080965, "end": 92081061 }, { "start": 92082300, "end": 92082466 }, { "start": 92083126, "end": 92083258 }, { "start": 92088730, "end": 92088817 }, { "start": 92093252, "end": 92093318 }, { "start": 92093746, "end": 92093831 }, { "start": 92096093, "end": 92096137 }, { "start": 92096674, "end": 92096838 }, { "start": 92106529, "end": 92106582 } ], "cds": { "start": 92064320, "end": 92106552 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "14", "start": 92524896, "end": 92572965, "strand": "-" }, "neighbourhood": { "release": "116", "start": 91582567, "end": 92582566, "genes": [ { "symbol": "CATSPERB", "ensemblId": "ENSG00000133962", "biotype": "protein_coding", "start": 91580696, "end": 91780707, "strand": "-", "slug": "catsperb" }, { "symbol": "TC2N", "ensemblId": "ENSG00000165929", "biotype": "protein_coding", "start": 91779746, "end": 91867536, "strand": "-", "slug": "tc2n" }, { "symbol": "FBLN5", "ensemblId": "ENSG00000140092", "biotype": "protein_coding", "start": 91869410, "end": 91948064, "strand": "-", "slug": "fbln5" }, { "symbol": "TRIP11", "ensemblId": "ENSG00000100815", "biotype": "protein_coding", "start": 91965991, "end": 92040902, "strand": "-", "slug": "trip11" }, { "symbol": "NDUFB1", "ensemblId": "ENSG00000183648", "biotype": "protein_coding", "start": 92115820, "end": 92121978, "strand": "-", "slug": "ndufb1" }, { "symbol": "CPSF2", "ensemblId": "ENSG00000165934", "biotype": "protein_coding", "start": 92121512, "end": 92172145, "strand": "+", "slug": "cpsf2" }, { "symbol": "SLC24A4", "ensemblId": "ENSG00000140090", "biotype": "protein_coding", "start": 92322581, "end": 92501481, "strand": "+", "slug": "slc24a4" }, { "symbol": "RIN3", "ensemblId": "ENSG00000100599", "biotype": "protein_coding", "start": 92513433, "end": 92688994, "strand": "+", "slug": "rin3" } ], "truncated": false }, "reports": [ { "slug": "autosomal-dominant-cerebellar-ataxias", "name": "Otozomal Dominant Serebellar Ataksiler (SCA'lar ve DRPLA)", "diseases": [ { "mondoId": "MONDO:0020380", "name": "Otozomal Dominant Serebellar Ataksi", "genes": 36, "inheritance": "autosomal-dominant", "description": "SCA1, SCA2, SCA3 (Machado-Joseph hastalığı), SCA6, SCA7, SCA17, SCA27B ve DRPLA dahil olmak üzere, ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, ATN1 ve FGF14 gibi genlerdeki tekrar genişlemeleri veya nokta varyantları nedeniyle ortaya çıkan, dominant kalıtımlı ataksiler grubu.", "management": "Genetik danışmanlık ve yakın akrabalar için semptom öncesi test, fizyoterapi ve semptom yönetimi; SCA27B gibi bazı formlar belirli ilaç tedavisine yanıt verebilir.", "evidence": { "gencc": [ "Ambry Genetics", "Labcorp Genetics (formerly Invitae)", "Laboratory for Molecular Medicine" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/tr/conditions/autosomal-dominant-cerebellar-ataxias" }, { "slug": "inherited-neurodegenerative-disorders-selected-genes", "name": "Kalıtsal Nörodejeneratif Hastalıklar", "diseases": [ { "mondoId": "MONDO:0024237", "name": "KIF5A ile İlişkili Nörodejeneratif Hastalık", "genes": 372, "inheritance": "autosomal-dominant", "description": "KIF5A genindeki bir kopyadaki değişikliklerden kaynaklanır. Bu gen, yük bağlayıcı bir kuyruğa sahip motor bir proteini kodlar. Farklı tipteki değişiklikler farklı hastalıklara yol açar: herediter spastik paraplejinin 10. tipi, Charcot-Marie-Tooth hastalığının aksonal bir formu ve amyotrofik lateral skleroz (ALS).", "management": "Tedavi semptomlara yöneliktir ve tabloya bağlıdır; fizyoterapi, antispastisite ilaçları ve multidisipliner ALS bakımını içerir. Etkilenmiş bir kişinin her çocuğunun bu değişikliği miras alma olasılığı 2'de 1'dir; genetik danışmanlık ailelerin bunu anlamasına yardımcı olur.", "evidence": { "gencc": [ "Ambry Genetics", "Labcorp Genetics (formerly Invitae)", "Laboratory for Molecular Medicine" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/tr/conditions/inherited-neurodegenerative-disorders-selected-genes" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-autonomic-nervous-system-physiology", "name": "Abnormal autonomic nervous system physiology", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-autonomic-nervous-system-physiology" }, { "slug": "abnormal-electrooculogram", "name": "Abnormal electrooculogram", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/abnormal-electrooculogram" }, { "slug": "abnormal-lower-motor-neuron-morphology", "name": "Abnormal lower motor neuron morphology", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-lower-motor-neuron-morphology" }, { "slug": "abnormal-pyramidal-sign", "name": "Abnormal pyramidal sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-pyramidal-sign" }, { "slug": "abnormal-vestibular-function", "name": "Abnormal vestibular function", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-vestibular-function" }, { "slug": "abnormality-of-extrapyramidal-motor-function", "name": "Abnormality of extrapyramidal motor function", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-extrapyramidal-motor-function" }, { "slug": "abnormality-of-temperature-regulation", "name": "Abnormality of temperature regulation", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-temperature-regulation" }, { "slug": "absent-achilles-reflex", "name": "Absent ankle reflexes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/absent-achilles-reflex" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "babinski-sign", "name": "Babinski sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/babinski-sign" }, { "slug": "postural-instability", "name": "Balance impairment", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/postural-instability" }, { "slug": "proptosis", "name": "Bulging eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/proptosis" }, { "slug": "chronic-pain", "name": "Chronic pain", "systems": [ "constitutional-symptom" ], "url": "https://dantelabs.com/traits/chronic-pain" }, { "slug": "clumsiness", "name": "Clumsiness", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/clumsiness" }, { "slug": "constipation", "name": "Constipation", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/constipation" }, { "slug": "degeneration-of-anterior-horn-cells", "name": "Degeneration of anterior horn cells", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/degeneration-of-anterior-horn-cells" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "slug": "degeneration-of-the-striatum", "name": "Degeneration of the striatum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/degeneration-of-the-striatum" }, { "slug": "delayed-speech-and-language-development", "name": "Delayed speech and language development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/delayed-speech-and-language-development" }, { "slug": "dementia", "name": "Dementia", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/dementia" }, { "slug": "depression", "name": "Depression", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/depression" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "sleep-disturbance", "name": "Difficulty sleeping", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sleep-disturbance" }, { "slug": "dilated-fourth-ventricle", "name": "Dilated fourth ventricle", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dilated-fourth-ventricle" }, { "slug": "distal-lower-limb-amyotrophy", "name": "Distal lower limb amyotrophy", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/distal-lower-limb-amyotrophy" }, { "slug": "distal-amyotrophy", "name": "Distal muscle wasting", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/distal-amyotrophy" }, { "slug": "diplopia", "name": "Double vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/diplopia" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "dystonia", "name": "Dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/dystonia" }, { "slug": "emg-abnormality", "name": "EMG abnormality", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/emg-abnormality" }, { "slug": "mask-like-facies", "name": "Expressionless face", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/mask-like-facies" }, { "slug": "facial-lingual-fasciculations", "name": "Facial-lingual fasciculations", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/facial-lingual-fasciculations" }, { "slug": "gaze-evoked-nystagmus", "name": "Gaze-evoked nystagmus", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gaze-evoked-nystagmus" }, { "slug": "gliosis", "name": "Gliosis", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/gliosis" }, { "slug": "hallucinations", "name": "Hallucinations", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hallucinations" }, { "slug": "impaired-horizontal-smooth-pursuit", "name": "Impaired horizontal smooth pursuit", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/impaired-horizontal-smooth-pursuit" }, { "slug": "impaired-vibratory-sensation", "name": "Impaired vibratory sensation", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/impaired-vibratory-sensation" }, { "slug": "vocal-cord-paralysis", "name": "Inability to move vocal cords", "systems": [ "abnormality-of-the-nervous-system", "abnormality-of-the-voice" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/vocal-cord-paralysis" }, { "slug": "hyperreflexia", "name": "Increased reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperreflexia" }, { "slug": "truncal-ataxia", "name": "Instability or lack of coordination of central trunk muscles", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/truncal-ataxia" }, { "slug": "spasticity", "name": "Involuntary muscle stiffness, contraction, or spasm", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/spasticity" }, { "slug": "neurogenic-bladder", "name": "Lack of bladder control due to nervous system injury", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/neurogenic-bladder" }, { "slug": "lewy-bodies", "name": "Lewy bodies", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/lewy-bodies" }, { "slug": "limb-ataxia", "name": "Limb ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/limb-ataxia" }, { "slug": "neuronal-loss-in-central-nervous-system", "name": "Loss of brain cells", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/neuronal-loss-in-central-nervous-system" }, { "slug": "memory-impairment", "name": "Memory impairment", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/memory-impairment" }, { "slug": "micrographia", "name": "Micrographia", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/micrographia" }, { "slug": "skeletal-muscle-atrophy", "name": "Muscle degeneration", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy" }, { "slug": "muscle-spasm", "name": "Muscle spasm", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/muscle-spasm" }, { "slug": "fasciculations", "name": "Muscle twitch", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/fasciculations" }, { "slug": "external-ophthalmoplegia", "name": "Paralysis or weakness of muscles within or surrounding outer part of eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/external-ophthalmoplegia" }, { "slug": "parkinsonism", "name": "Parkinsonism", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/parkinsonism" }, { "slug": "peripheral-axonal-neuropathy", "name": "Peripheral axonal neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/peripheral-axonal-neuropathy" }, { "slug": "peripheral-neuropathy", "name": "Peripheral neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/peripheral-neuropathy" }, { "slug": "personality-changes", "name": "Personality changes", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/personality-changes" }, { "slug": "dysphagia", "name": "Poor swallowing", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dysphagia" }, { "slug": "progressive-cerebellar-ataxia", "name": "Progressive cerebellar ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/progressive-cerebellar-ataxia" }, { "slug": "progressive-external-ophthalmoplegia", "name": "Progressive external ophthalmoplegia", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/progressive-external-ophthalmoplegia" }, { "slug": "progressive-gait-ataxia", "name": "Progressive gait ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/progressive-gait-ataxia" }, { "slug": "resting-tremor", "name": "Resting tremor", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/resting-tremor" }, { "slug": "rigidity", "name": "Rigidity", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/rigidity" }, { "slug": "short-stepped-shuffling-gait", "name": "Short stepped shuffling walk", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/short-stepped-shuffling-gait" }, { "slug": "bradykinesia", "name": "Slow movements", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/bradykinesia" }, { "slug": "spinocerebellar-tract-degeneration", "name": "Spinocerebellar tract degeneration", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/spinocerebellar-tract-degeneration" }, { "slug": "substantia-nigra-gliosis", "name": "Substantia nigra gliosis", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/substantia-nigra-gliosis" }, { "slug": "supranuclear-ophthalmoplegia", "name": "Supranuclear ophthalmoplegia", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/supranuclear-ophthalmoplegia" }, { "slug": "tremor", "name": "Tremor", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/tremor" }, { "slug": "dysmetric-saccades", "name": "Uncoordinated eye movement", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/dysmetric-saccades" }, { "slug": "upper-motor-neuron-dysfunction", "name": "Upper motor neuron dysfunction", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/upper-motor-neuron-dysfunction" }, { "slug": "urinary-bladder-sphincter-dysfunction", "name": "Urinary bladder sphincter dysfunction", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/urinary-bladder-sphincter-dysfunction" }, { "slug": "urinary-urgency", "name": "Urinary urgency", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/urinary-urgency" }, { "slug": "weak-voice", "name": "Weak voice", "systems": [ "abnormality-of-the-voice" ], "url": "https://dantelabs.com/traits/weak-voice" }, { "slug": "distal-muscle-weakness", "name": "Weakness of outermost muscles", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/distal-muscle-weakness" } ], "related": [ { "slug": "afg3l2", "symbol": "AFG3L2", "name": "AFG3 like matrix AAA peptidase subunit 2", "shared": 2, "url": "https://dantelabs.com/tr/genes/afg3l2" }, { "slug": "atn1", "symbol": "ATN1", "name": "atrophin 1", "shared": 2, "url": "https://dantelabs.com/tr/genes/atn1" }, { "slug": "atp1a3", "symbol": "ATP1A3", "name": "ATPase Na+/K+ transporting subunit alpha 3", "shared": 2, "url": "https://dantelabs.com/tr/genes/atp1a3" }, { "slug": "atxn1", "symbol": "ATXN1", "name": "ataxin 1", "shared": 2, "url": "https://dantelabs.com/tr/genes/atxn1" }, { "slug": "atxn10", "symbol": "ATXN10", "name": "ataxin 10", "shared": 2, "url": "https://dantelabs.com/tr/genes/atxn10" }, { "slug": "atxn2", "symbol": "ATXN2", "name": "ataxin 2", "shared": 2, "url": "https://dantelabs.com/tr/genes/atxn2" }, { "slug": "atxn7", "symbol": "ATXN7", "name": "ataxin 7", "shared": 2, "url": "https://dantelabs.com/tr/genes/atxn7" }, { "slug": "bean1", "symbol": "BEAN1", "name": "brain expressed associated with NEDD4 1", "shared": 2, "url": "https://dantelabs.com/tr/genes/bean1" }, { "slug": "cacna1a", "symbol": "CACNA1A", "name": "calcium voltage-gated channel subunit alpha1 A", "shared": 2, "url": "https://dantelabs.com/tr/genes/cacna1a" }, { "slug": "cacna1g", "symbol": "CACNA1G", "name": "calcium voltage-gated channel subunit alpha1 G", "shared": 2, "url": "https://dantelabs.com/tr/genes/cacna1g" }, { "slug": "camta1", "symbol": "CAMTA1", "name": "calmodulin binding transcription activator 1", "shared": 2, "url": "https://dantelabs.com/tr/genes/camta1" }, { "slug": "dab1", "symbol": "DAB1", "name": "DAB adaptor protein 1", "shared": 2, "url": "https://dantelabs.com/tr/genes/dab1" } ], "sources": { "bundleId": "2026.10.19-9814e911", "panel": "2026-10-19", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }