VWA3B gene

von Willebrand factor A domain containing 3B

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

From NCBI Gene:

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]

From NCBI Gene:

  • Spinocerebellar ataxia, autosomal recessive 22

From UniProt:

Spinocerebellar ataxia, autosomal recessive, 22 (SCAR22): A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR22 patients manifest variable severity of intellectual disability associated with adult-onset cerebellar ataxia. [MIM:616948]

Cytogenetic Location: 2q11.2, which is the long (q) arm of chromosome 2 at position 11.2

Molecular Location: base pairs 98,087,132 to 98,330,675 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2q11.2, which is the long (q) arm of chromosome 2 at position 11.2
  • SCAR22