ATXN10

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Ataxin 10
Identifiers
Symbols ATXN10 ; E46L; HUMEEP; SCA10
External IDs OMIM611150 MGI1859293 HomoloGene40858 GeneCards: ATXN10 Gene
Orthologs
Species Human Mouse
Entrez 25814 54138
Ensembl ENSG00000130638 ENSMUSG00000016541
UniProt Q9UBB4 P28658
RefSeq (mRNA) NM_001167621 NM_016843
RefSeq (protein) NP_001161093 NP_058539
Location (UCSC) Chr 22:
46.07 – 46.24 Mb
Chr 15:
85.34 – 85.46 Mb
PubMed search [1] [2]

Ataxin-10 is a protein that in humans is encoded by the ATXN10 gene.[1][2]

Clinical significance[edit]

The autosomal dominant cerebellar ataxias (ADCAs) are a clinically and genetically heterogeneous group of disorders characterized by ataxia, dysarthria, dysmetria, and intention tremor. All ADCAs involve some degree of cerebellar dysfunction and a varying degree of signs from other components of the nervous system. A commonly accepted clinical classification (Harding, 1993) divides ADCAs into 3 different groups based on the presence or absence of associated symptoms such as brainstem signs or retinopathy. The presence of pyramidal and extrapyramidal symptoms and ophthalmoplegia makes the diagnosis of ADCA I, the presence of retinopathy points to ADCA II, and the absence of associated signs to ADCA III. Genetic linkage and molecular analyses revealed that ADCAs are genetically heterogeneous even within the various subtypes.[2]

Defects in ATXN10 have been associated with Joubert_syndrome.[3]

References[edit]

  1. ^ Zu L, Figueroa KP, Grewal R, Pulst SM (Apr 1999). "Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22". Am J Hum Genet 64 (2): 594–9. doi:10.1086/302247. PMC 1377770. PMID 9973298. 
  2. ^ a b "Entrez Gene: ATXN10 ataxin 10". 
  3. ^ Sang L, Miller JJ, Corbit KC, et al. (May 2011). "Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways". Cell 145 (4): 513–28. doi:10.1016/j.cell.2011.04.019. PMC 3383065. PMID 21565611. 

Further reading[edit]

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