Gene Symbol | VWA3B |
Entrez Gene ID | 200403 |
Full Name | von Willebrand factor A domain containing 3B |
Synonyms | SCAR22 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes an intracellular protein that contains a von Willebrand factor type A domain. Intracellular proteins with VWA domains are thought to function in transcription, DNA repair, ribosomal and membrane transport and the proteasome. Mutations in this gene are associated with Spinocerebellar ataxia, autosomal recessive 22. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2017]. |
Disorder MIM: | |
Disorder Html: | ?Spinocerebellar ataxia, autosomal recessive 22, 616948 (3) |