VWA3B, Official Symbol VWA3Bprovided by HGNC Official Full Name von Willebrand factor A domain containing 3Bprovided by HGNC Primary source HGNC:HGNC:28385 See related Ensembl:ENSG00000168658 MIM:614884; AllianceGenome:HGNC:28385 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SCAR22 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] Expression Restricted expression toward testis (RPKM 15.5) See more Orthologs mouse all