BCAP31

Template:Short description Template:Cs1 config Template:Infobox gene 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:

• APP,
• BCL2L1,
• BCL2,
• CASP8, and

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.

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.

External links

• Template:UCSC genome browser
• Template:UCSC gene details