ATXN10 gene

ataxin 10

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a protein that may function in neuron survival, neuron differentiation, and neuritogenesis. These roles may be carried out via activation of the mitogen-activated protein kinase cascade. Expansion of an ATTCT repeat from 9-32 copies to 800-4500 copies in an intronic region of this locus has been associated with spinocerebellar ataxia, type 10. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jul 2016]

From UniProt:

Necessary for the survival of cerebellar neurons. Induces neuritogenesis by activating the Ras-MAP kinase pathway. May play a role in the maintenance of a critical intracellular glycosylation level and homeostasis.

From NCBI Gene:

  • Spinocerebellar ataxia 10

From UniProt:

Defects in ATXN1 may be a cause of nephronophthisis a chronic tubulo-interstitial nephropathy that leads to anemia, polyuria, polydipsia, isosthenuria and death in uremia.

Spinocerebellar ataxia 10 (SCA10): Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA10 is an autosomal dominant cerebellar ataxia (ADCA). [MIM:603516]

Cytogenetic Location: 22q13.31, which is the long (q) arm of chromosome 22 at position 13.31

Molecular Location: base pairs 45,671,798 to 45,845,307 on chromosome 22 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 22q13.31, which is the long (q) arm of chromosome 22 at position 13.31
  • E46L
  • HUMEEP
  • SCA10