Ataxin 10

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ATXN10
Identifiers
Aliases ATXN10, E46L, HUMEEP, SCA10, ataxin 10
External IDs MGI: 1859293 HomoloGene: 40858 GeneCards: ATXN10
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_013236
NM_001167621

NM_016843

RefSeq (protein)

NP_001161093
NP_037368

NP_058539.2
NP_058539

Location (UCSC) Chr 22: 45.67 – 45.85 Mb Chr 15: 85.34 – 85.46 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Ataxin-10 is a protein that in humans is encoded by the ATXN10 gene.[3][4]

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.[4]

Defects in ATXN10 have been associated with Joubert syndrome.[5]

References[edit]

Further reading[edit]

External links[edit]