BCAP31 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human BCAP31 wild-type allele is located in the vicinity of Xq28 and is approximately 24 kb in length. This allele, which encodes B-cell receptor-associated protein 31, is involved in protein maturation and transport. Mutations in the gene are associated with deafness, dystonia, and cerebral hypomyelination and microdeletions in the region are associated with contiguous ABCD1/DXS1375E deletion syndrome (CADDS).

**Synonyms:** - 6C6-AG - B Cell Receptor Associated Protein 31 wt Allele - BAP31 - CDM - DDCH - DXS1357E