{ "url": "https://dantelabs.com/lt/genes/xk", "gene": { "slug": "xk", "symbol": "XK", "name": "X-linked Kx blood group antigen, Kell and VPS13A binding protein", "hgnc": "HGNC:12811", "summary": null, "location": "Xp21.1", "locusType": "gene with protein product", "aliases": [ "XKR1", "Kx", "X1k" ], "previousSymbols": [ "NA", "NAC" ], "ensemblId": "ENSG00000047597", "entrezId": 7504, "omim": [ "314850" ], "uniprot": [ "P51811" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "X", "start": 37685791, "end": 37732130, "strand": "+", "ensemblTranscript": "ENST00000378616.5", "refseqTranscript": "NM_021083.4", "ensemblProtein": "ENSP00000367879.3", "refseqProtein": "NP_066569.1", "exons": [ { "start": 37685791, "end": 37686206 }, { "start": 37694286, "end": 37694548 }, { "start": 37727636, "end": 37732130 } ], "cds": { "start": 37685962, "end": 37728462 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "X", "start": 37545012, "end": 37591383, "strand": "+" }, "neighbourhood": { "release": "116", "start": 37208961, "end": 38208960, "genes": [ { "symbol": "PRRG1", "ensemblId": "ENSG00000130962", "biotype": "protein_coding", "start": 37349269, "end": 37492702, "strand": "+", "slug": "prrg1" }, { "symbol": "", "ensemblId": "ENSG00000250349", "biotype": "protein_coding", "start": 37349330, "end": 38687674, "strand": "+" }, { "symbol": "LANCL3", "ensemblId": "ENSG00000147036", "biotype": "protein_coding", "start": 37571565, "end": 37684463, "strand": "+", "slug": "lancl3" }, { "symbol": "CYBB", "ensemblId": "ENSG00000165168", "biotype": "protein_coding", "start": 37780018, "end": 37816994, "strand": "+", "slug": "cybb" }, { "symbol": "DYNLT3", "ensemblId": "ENSG00000165169", "biotype": "protein_coding", "start": 37836611, "end": 37847593, "strand": "-", "slug": "dynlt3" }, { "symbol": "H2AP", "ensemblId": "ENSG00000187516", "biotype": "protein_coding", "start": 37990779, "end": 37991314, "strand": "+", "slug": "h2ap" }, { "symbol": "H2AL3", "ensemblId": "ENSG00000229674", "biotype": "protein_coding", "start": 37994272, "end": 37994904, "strand": "+", "slug": "h2al3" }, { "symbol": "SYTL5", "ensemblId": "ENSG00000147041", "biotype": "protein_coding", "start": 38006515, "end": 38128964, "strand": "+", "slug": "sytl5" }, { "symbol": "SRPX", "ensemblId": "ENSG00000101955", "biotype": "protein_coding", "start": 38149336, "end": 38220941, "strand": "-", "slug": "srpx" } ], "truncated": false }, "reports": [ { "slug": "neuroacanthocytosis-and-huntington-disease-phenocopies", "name": "Neuroakantocitozė ir Hantingtono ligą imituojantys sutrikimai", "diseases": [ { "mondoId": "MONDO:0016987", "name": "Neuroakantocitozė", "genes": 2, "inheritance": null, "description": "Ligų grupė, kuriai būdingi nenormalios formos raudonieji kraujo kūneliai ir neurodegeneracija, įskaitant su VPS13A susijusią chorėją-akantocitozę (recesyvinė) ir su XK susijusį McLeod sindromą (X chromosomos).", "management": "Neurologinė ir psichiatrinė priežiūra; žmonėms, sergantiems McLeod sindromu, perpilant kraują, reikalingas Kell suderinamas kraujas.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/lt/conditions/neuroacanthocytosis-and-huntington-disease-phenocopies" }, { "slug": "inherited-neurodegenerative-disorders-selected-genes", "name": "Paveldimos neurodegeneracinės ligos", "diseases": [ { "mondoId": "MONDO:0024237", "name": "Su KIF5A susijusi neurodegeneracinė liga", "genes": 372, "inheritance": "autosomal-dominant", "description": "Ją sukelia pokyčiai viename KIF5A geno egzemplioriuje. Šis genas koduoja motorinį baltymą su krovinį surišančia uodega. Skirtingų tipų pokyčiai sukelia skirtingas ligas: paveldimą spastinę paraplegiją 10 tipo, aksoninę Charcot-Marie-Tooth ligos formą ir amiotrofinę šoninę sklerozę (ALS).", "management": "Gydymas simptominis ir priklauso nuo ligos pasireiškimo. Jis apima fizioterapiją, vaistus nuo spastiškumo ir daugiadisciplininę ALS priežiūrą. Kiekvienas vaiko, kuriam perduotas pakitimas, turi 1 iš 2 tikimybę jį paveldėti. Genetinis konsultavimas padeda šeimoms tai suprasti.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/lt/conditions/inherited-neurodegenerative-disorders-selected-genes" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "absent-achilles-reflex", "name": "Absent ankle reflexes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/absent-achilles-reflex" }, { "slug": "acanthocytosis", "name": "Acanthocytosis", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/acanthocytosis" }, { "slug": "anxiety", "name": "Anxiety", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/anxiety" }, { "slug": "areflexia-of-upper-limbs", "name": "Areflexia of upper limbs", "systems": [ "abnormality-of-limbs", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/areflexia-of-upper-limbs" }, { "slug": "rhabdomyolysis", "name": "Breakdown of skeletal muscle", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/rhabdomyolysis" }, { "slug": "chorea", "name": "Chorea", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/chorea" }, { "slug": "decreased-circulating-haptoglobin-concentration", "name": "Decreased circulating haptoglobin concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/decreased-circulating-haptoglobin-concentration" }, { "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": "cardiomyopathy", "name": "Disease of the heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cardiomyopathy" }, { "slug": "dyskinesia", "name": "Disorder of involuntary muscle movements", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/dyskinesia" }, { "slug": "dystonia", "name": "Dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dystonia" }, { "slug": "elevated-circulating-creatine-kinase-activity", "name": "Elevated blood creatine phosphokinase", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity" }, { "slug": "elevated-circulating-alanine-aminotransferase-concentration", "name": "Elevated circulating alanine aminotransferase concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/elevated-circulating-alanine-aminotransferase-concentration" }, { "slug": "elevated-circulating-aspartate-aminotransferase-concentration", "name": "Elevated circulating aspartate aminotransferase concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/elevated-circulating-aspartate-aminotransferase-concentration" }, { "slug": "elevated-gamma-glutamyltransferase-level", "name": "Elevated gamma-glutamyltransferase level", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/elevated-gamma-glutamyltransferase-level" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "generalized-onset-seizure", "name": "Generalized-onset seizure", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/generalized-onset-seizure" }, { "slug": "impaired-vibration-sensation-at-ankles", "name": "Impaired vibration sensation at ankles", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/impaired-vibration-sensation-at-ankles" }, { "slug": "increased-circulating-lactate-dehydrogenase-concentration", "name": "Increased circulating lactate dehydrogenase concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/increased-circulating-lactate-dehydrogenase-concentration" }, { "slug": "splenomegaly", "name": "Increased spleen size", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/splenomegaly" }, { "slug": "motor-axonal-neuropathy", "name": "Motor axonal neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/motor-axonal-neuropathy" }, { "slug": "myopathy", "name": "Muscle tissue disease", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/myopathy" }, { "slug": "muscle-weakness", "name": "Muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/muscle-weakness" }, { "slug": "compulsive-behaviors", "name": "Obsessive compulsive behavior", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/compulsive-behaviors" }, { "slug": "personality-disorder", "name": "Personality disorder", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/personality-disorder" }, { "slug": "atrial-fibrillation", "name": "Quivering upper heart chambers resulting in irregular heartbeat", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/atrial-fibrillation" }, { "slug": "dilated-cardiomyopathy", "name": "Stretched and thinned heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dilated-cardiomyopathy" } ], "related": [ { "slug": "vps13a", "symbol": "VPS13A", "name": "vacuolar protein sorting 13 homolog A", "shared": 2, "url": "https://dantelabs.com/lt/genes/vps13a" }, { "slug": "aars1", "symbol": "AARS1", "name": "alanyl-tRNA synthetase 1", "shared": 1, "url": "https://dantelabs.com/lt/genes/aars1" }, { "slug": "aars2", "symbol": "AARS2", "name": "alanyl-tRNA synthetase 2, mitochondrial", "shared": 1, "url": "https://dantelabs.com/lt/genes/aars2" }, { "slug": "abcb7", "symbol": "ABCB7", "name": "ATP binding cassette subfamily B member 7", "shared": 1, "url": "https://dantelabs.com/lt/genes/abcb7" }, { "slug": "abcd1", "symbol": "ABCD1", "name": "ATP binding cassette subfamily D member 1", "shared": 1, "url": "https://dantelabs.com/lt/genes/abcd1" }, { "slug": "abhd16a", "symbol": "ABHD16A", "name": "abhydrolase domain containing 16A, phospholipase", "shared": 1, "url": "https://dantelabs.com/lt/genes/abhd16a" }, { "slug": "acer3", "symbol": "ACER3", "name": "alkaline ceramidase 3", "shared": 1, "url": "https://dantelabs.com/lt/genes/acer3" }, { "slug": "aco2", "symbol": "ACO2", "name": "aconitase 2", "shared": 1, "url": "https://dantelabs.com/lt/genes/aco2" }, { "slug": "adar", "symbol": "ADAR", "name": "adenosine deaminase RNA specific", "shared": 1, "url": "https://dantelabs.com/lt/genes/adar" }, { "slug": "adprs", "symbol": "ADPRS", "name": "ADP-ribosylserine hydrolase", "shared": 1, "url": "https://dantelabs.com/lt/genes/adprs" }, { "slug": "afg3l2", "symbol": "AFG3L2", "name": "AFG3 like matrix AAA peptidase subunit 2", "shared": 1, "url": "https://dantelabs.com/lt/genes/afg3l2" }, { "slug": "agtpbp1", "symbol": "AGTPBP1", "name": "ATP/GTP binding carboxypeptidase 1", "shared": 1, "url": "https://dantelabs.com/lt/genes/agtpbp1" } ], "sources": { "bundleId": "2026.10.19-9814e911", "panel": "2026-10-19", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }