{ "url": "https://dantelabs.com/sv/genes/atcay", "gene": { "slug": "atcay", "symbol": "ATCAY", "name": "ATCAY kinesin light chain interacting caytaxin", "hgnc": "HGNC:779", "summary": null, "location": "19p13.3", "locusType": "gene with protein product", "aliases": [ "BNIP-H" ], "previousSymbols": [], "ensemblId": "ENSG00000167654", "entrezId": 85300, "omim": [ "608179" ], "uniprot": [ "Q86WG3" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "19", "start": 3880685, "end": 3928082, "strand": "+", "ensemblTranscript": "ENST00000450849.7", "refseqTranscript": "NM_033064.5", "ensemblProtein": "ENSP00000390941.1", "refseqProtein": "NP_149053.1", "exons": [ { "start": 3880685, "end": 3881008 }, { "start": 3885727, "end": 3885844 }, { "start": 3902487, "end": 3902545 }, { "start": 3905434, "end": 3905655 }, { "start": 3907734, "end": 3907919 }, { "start": 3908268, "end": 3908370 }, { "start": 3909486, "end": 3909617 }, { "start": 3910803, "end": 3910889 }, { "start": 3913758, 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"slug": "dohh" }, { "symbol": "FZR1", "ensemblId": "ENSG00000105325", "biotype": "protein_coding", "start": 3506270, "end": 3538334, "strand": "+", "slug": "fzr1" }, { "symbol": "MFSD12", "ensemblId": "ENSG00000161091", "biotype": "protein_coding", "start": 3538261, "end": 3574290, "strand": "-", "slug": "mfsd12" }, { "symbol": "TEKTIP1", "ensemblId": "ENSG00000183397", "biotype": "protein_coding", "start": 3539169, "end": 3544030, "strand": "+", "slug": "tektip1" }, { "symbol": "HMG20B", "ensemblId": "ENSG00000064961", "biotype": "protein_coding", "start": 3572692, "end": 3579088, "strand": "+", "slug": "hmg20b" }, { "symbol": "GIPC3", "ensemblId": "ENSG00000179855", "biotype": "protein_coding", "start": 3585474, "end": 3593541, "strand": "+", "slug": "gipc3" }, { "symbol": "TBXA2R", "ensemblId": "ENSG00000006638", "biotype": "protein_coding", "start": 3594506, "end": 3606900, "strand": "-", "slug": "tbxa2r" }, { "symbol": "CACTIN", "ensemblId": "ENSG00000105298", "biotype": "protein_coding", "start": 3610643, "end": 3626833, "strand": "-", "slug": "cactin" }, { "symbol": "PIP5K1C", "ensemblId": "ENSG00000186111", "biotype": "protein_coding", "start": 3630181, "end": 3700506, "strand": "-", "slug": "pip5k1c" }, { "symbol": "TJP3", "ensemblId": "ENSG00000105289", "biotype": "protein_coding", "start": 3708310, "end": 3750813, "strand": "+", "slug": "tjp3" }, { "symbol": "APBA3", "ensemblId": "ENSG00000011132", "biotype": "protein_coding", "start": 3750772, "end": 3761700, "strand": "-", "slug": "apba3" }, { "symbol": "MRPL54", "ensemblId": "ENSG00000183617", "biotype": "protein_coding", "start": 3761841, "end": 3769033, "strand": "+", "slug": "mrpl54" }, { "symbol": "RAX2", "ensemblId": "ENSG00000173976", "biotype": "protein_coding", "start": 3769089, "end": 3772238, "strand": "-", "slug": "rax2" }, { "symbol": "MATK", "ensemblId": "ENSG00000007264", "biotype": "protein_coding", "start": 3777969, "end": 3802129, "strand": "-", "slug": "matk" }, { "symbol": "ZFR2", "ensemblId": "ENSG00000105278", "biotype": "protein_coding", "start": 3804024, "end": 3869055, "strand": "-", "slug": "zfr2" }, { "symbol": "NMRK2", "ensemblId": "ENSG00000077009", "biotype": "protein_coding", "start": 3932994, "end": 3943081, "strand": "+", "slug": "nmrk2" }, { "symbol": "DAPK3", "ensemblId": "ENSG00000167657", "biotype": "protein_coding", "start": 3958453, "end": 3971130, "strand": "-", "slug": "dapk3" }, { "symbol": "EEF2", "ensemblId": "ENSG00000167658", "biotype": "protein_coding", "start": 3976044, "end": 3985479, "strand": "-", "slug": "eef2" }, { "symbol": "PIAS4", "ensemblId": "ENSG00000105229", "biotype": "protein_coding", "start": 4007690, "end": 4039386, "strand": "+", "slug": "pias4" }, { "symbol": "ZBTB7A", "ensemblId": "ENSG00000178951", "biotype": "protein_coding", "start": 4041419, "end": 4067636, "strand": "-", "slug": "zbtb7a" }, { "symbol": "MAP2K2", "ensemblId": "ENSG00000126934", "biotype": "protein_coding", "start": 4090316, "end": 4124238, "strand": "-", "slug": "map2k2" }, { "symbol": "CREB3L3", "ensemblId": "ENSG00000060566", "biotype": "protein_coding", "start": 4152949, "end": 4173057, "strand": "+", "slug": "creb3l3" }, { "symbol": "SIRT6", "ensemblId": "ENSG00000077463", "biotype": "protein_coding", "start": 4174104, "end": 4182604, "strand": "-", "slug": "sirt6" }, { "symbol": "ANKRD24", "ensemblId": "ENSG00000089847", "biotype": "protein_coding", "start": 4182630, "end": 4224818, "strand": "+", "slug": "ankrd24" }, { "symbol": "EBI3", "ensemblId": "ENSG00000105246", "biotype": "protein_coding", "start": 4229267, "end": 4238167, "strand": "+", "slug": "ebi3" }, { "symbol": "YJU2", "ensemblId": "ENSG00000105248", "biotype": "protein_coding", "start": 4247062, "end": 4269091, "strand": "+", "slug": "yju2" }, { "symbol": "SHD", "ensemblId": "ENSG00000105251", "biotype": "protein_coding", "start": 4279013, "end": 4290728, "strand": "+", "slug": "shd" }, { "symbol": "TMIGD2", "ensemblId": "ENSG00000167664", "biotype": "protein_coding", "start": 4292227, "end": 4302431, "strand": "-", "slug": "tmigd2" }, { "symbol": "FSD1", "ensemblId": "ENSG00000105255", "biotype": "protein_coding", "start": 4304587, "end": 4323844, "strand": "+", "slug": "fsd1" }, { "symbol": "STAP2", "ensemblId": "ENSG00000178078", "biotype": "protein_coding", "start": 4324040, "end": 4342786, "strand": "-", "slug": "stap2" }, { "symbol": "MPND", "ensemblId": "ENSG00000008382", "biotype": "protein_coding", "start": 4343527, "end": 4360086, "strand": "+", "slug": "mpnd" }, { "symbol": "SH3GL1", "ensemblId": "ENSG00000141985", "biotype": "protein_coding", "start": 4360367, "end": 4400573, "strand": "-", "slug": "sh3gl1" }, { "symbol": "CHAF1A", "ensemblId": "ENSG00000167670", "biotype": "protein_coding", "start": 4402522, "end": 4445018, "strand": "+", "slug": "chaf1a" } ], "truncated": false }, "reports": [ { "slug": "autosomal-recessive-cerebellar-ataxias", "name": "Autosomala recessiva cerebellära ataxier (inkl. CANVAS och AVED)", "diseases": [ { "mondoId": "MONDO:0015244", "name": "Autosomal recessiv cerebellär ataxi", "genes": 57, "inheritance": "autosomal-recessive", "description": "En grupp recessivt nedärvda ataxier som orsakas av biallleliska varianter i gener som RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 och SYNE1.", "management": "Ataxi med vitamin E-brist (TTPA) kan behandlas med vitamin E-tillskott. Andra former behandlas med sjukgymnastik och symtomlindrande vård, och släktingar kan erbjudas bärarprov.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/sv/conditions/autosomal-recessive-cerebellar-ataxias" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "hypomimic-face", "name": "Decreased facial expressions", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypomimic-face" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "pes-planus", "name": "Dropped arches", "systems": [ "abnormality-of-limbs" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/pes-planus" }, { "slug": "dystonia", "name": "Dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dystonia" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "gait-ataxia", "name": "Inability to coordinate movements when walking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/gait-ataxia" }, { "slug": "truncal-ataxia", "name": "Instability or lack of coordination of central trunk muscles", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/truncal-ataxia" }, { "slug": "intention-tremor", "name": "Intention tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intention-tremor" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "skeletal-muscle-atrophy", "name": "Muscle degeneration", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy" }, { "slug": "nonprogressive-cerebellar-ataxia", "name": "Nonprogressive cerebellar ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/nonprogressive-cerebellar-ataxia" }, { "slug": "abnormal-retinal-morphology", "name": "Retina issue", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/abnormal-retinal-morphology" }, { "slug": "bradykinesia", "name": "Slow movements", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bradykinesia" }, { "slug": "cerebellar-hypoplasia", "name": "Small cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebellar-hypoplasia" }, { "slug": "broad-based-gait", "name": "Wide based walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/broad-based-gait" } ], "related": [ { "slug": "ahi1", "symbol": "AHI1", "name": "Abelson helper integration site 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/ahi1" }, { "slug": "ano10", "symbol": "ANO10", "name": "anoctamin 10", "shared": 1, "url": "https://dantelabs.com/sv/genes/ano10" }, { "slug": "atg7", "symbol": "ATG7", "name": "autophagy related 7", "shared": 1, "url": "https://dantelabs.com/sv/genes/atg7" }, { "slug": "atp8a2", "symbol": "ATP8A2", "name": "ATPase phospholipid transporting 8A2", "shared": 1, "url": "https://dantelabs.com/sv/genes/atp8a2" }, { "slug": "ca8", "symbol": "CA8", "name": "carbonic anhydrase 8 (inactive)", "shared": 1, "url": "https://dantelabs.com/sv/genes/ca8" }, { "slug": "cc2d2a", "symbol": "CC2D2A", "name": "coiled-coil and C2 domain containing 2A", "shared": 1, "url": "https://dantelabs.com/sv/genes/cc2d2a" }, { "slug": "cep290", "symbol": "CEP290", "name": "centrosomal protein 290", "shared": 1, "url": "https://dantelabs.com/sv/genes/cep290" }, { "slug": "cep41", "symbol": "CEP41", "name": "centrosomal protein 41", "shared": 1, "url": "https://dantelabs.com/sv/genes/cep41" }, { "slug": "coa7", "symbol": "COA7", "name": "cytochrome c oxidase assembly factor 7", "shared": 1, "url": "https://dantelabs.com/sv/genes/coa7" }, { "slug": "coq8a", "symbol": "COQ8A", "name": "coenzyme Q8A", "shared": 1, "url": "https://dantelabs.com/sv/genes/coq8a" }, { "slug": "cspp1", "symbol": "CSPP1", "name": "centrosome and spindle pole associated protein 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/cspp1" }, { "slug": "ctdp1", "symbol": "CTDP1", "name": "CTD phosphatase 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/ctdp1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }