COL16A1 Summary

This gene encodes the alpha chain of type XVI collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. High levels of type XVI collagen have been found in fibroblasts and keratinocytes, and in smooth muscle and amnion. [provided by RefSeq, Jul 2008]

COL16A1 Details

Gene Symbol : COL16A1

Gene Name : Collagen type XVI alpha 1 chain

Chromosome : CHR 1: 317,041,66-316,522,46

Locus : 1p35.2

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ATXN10 Summary

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]

ATXN10 Details

Gene Symbol : ATXN10

Gene Name : Ataxin 10

Chromosome : CHR 22: 456,717,97-458,453,06

Locus : 22q13.31

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