BCAP31
Protein-coding gene in humans
From Wikipedia, the free encyclopedia
B-cell receptor-associated protein 31 is a protein that in humans is encoded by the BCAP31 gene.[5]
Interactions
BCAP31-related disorders
The BCAP31 (B-Cell-Associated Protein 31) gene, located at Xq28, encodes BAP31, which plays a role in ER-to-Golgi anterograde transport. As the gene is located on the X-chromosome, these disorders primarily affect males. Patients commonly present with a congenital neurological phenotype characterized by severe intellectual disability (ID), dystonia, deafness, and central hypomyelination, delineating a so-called deafness, dystonia and cerebral hypomyelination syndrome (DDCH). Most patients with a Loss of Function pathogenic BCAP31 variant have permanent or transient liver enzyme elevation.[8]
BCAP31.org is a resource started by parents of a child with a BCAP31-related disorder diagnosis which aims support families affected by the BCAP31 gene variant, clinicians treating patients, and researchers pursuing treatments by collaboration or funding efforts.
