BCAP31

B-cell receptor-associated protein 31 is a protein that in humans is encoded by the BCAP31 gene.

Interactions

BCAP31 has been shown to interact with:

The BCAP31 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, dystonia, deafness, and central hypomyelination, delineating a so-called deafness, dystonia and cerebral hypomyelination syndrome. Most patients with a Loss of Function pathogenic BCAP31 variant have permanent or transient liver enzyme elevation.
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.