FBLN1 Summary

Fibulin 1 is a secreted glycoprotein that becomes incorporated into a fibrillar extracellular matrix. Calcium-binding is apparently required to mediate its binding to laminin and nidogen. It mediates platelet adhesion via binding fibrinogen. Four splice variants which differ in the 3' end have been identified. Each variant encodes a different isoform, but no functional distinctions have been identified among the four variants. [provided by RefSeq, Jul 2008]

FBLN1 Details

Gene Symbol : FBLN1

Gene Name : Fibulin 1

Chromosome : CHR 22: 455,028,38-456,011,33

Locus : 22q13.31

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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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