Ataxin 10

Ataxin-10 is a protein that in humans is encoded by the ATXN10 gene.^[4][5]

ATXN10
Identifiers
Aliases	ATXN10, E46L, HUMEEP, SCA10, ataxin 10, ATX10
External IDs	OMIM: 611150; MGI: 1859293; HomoloGene: 40858; GeneCards: ATXN10; OMA:ATXN10 - orthologs
Gene location (Human) Chr. Chromosome 22 (human)[1] Band 22q13.31 Start 45,671,798 bp[1] End 45,845,307 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ventricular zone ganglionic eminence gonad prefrontal cortex stromal cell of endometrium islet of Langerhans right ventricle postcentral gyrus pons retinal pigment epithelium n/a More reference expression data BioGPS n/a
Gene ontology Molecular function enzyme binding protein binding identical protein binding Cellular component cytoplasm perinuclear region of cytoplasm soma plasma membrane dendrite membrane extracellular space cytosol Biological process neuron projection development nervous system development protein homotrimerization cilium assembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 25814 54138 Ensembl ENSG00000130638 ENSMUSG00000016541 UniProt Q9UBB4 P28658 RefSeq (mRNA) NM_013236 NM_001167621 NM_016843 RefSeq (protein) NP_001161093 NP_037368 NP_058539 Location (UCSC) Chr 22: 45.67 – 45.85 Mb n/a PubMed search [2] [3]
Wikidata
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Clinical significance

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 three 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.^[5]

Defects in ATXN10 have been associated with Joubert syndrome.^[6]