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Article

Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus.

American journal of human genetics - 5 Sept 2013

Cacciagli Pierre, Sutera-Sardo Julie, Borges-Correia Ana, Roux Jean-Christophe, Dorboz Imen, Desvignes Jean-Pierre, Badens Catherine, Delepine Marc, Lathrop Mark, Cau Pierre, Lévy Nicolas, Girard Nadine, Sarda Pierre, Boespflug-Tanguy Odile, Villard Laurent

Abstract excerpt

BAP31 is one of the most abundant endoplasmic reticulum (ER) membrane proteins. It is a chaperone protein involved in several pathways, including ER-associated degradation, export of ER proteins to the Golgi apparatus, and programmed cell death. BAP31 is encoded by BCAP31, located in human Xq28 and highly expressed in neurons. We identified loss-of-function mutations in BCAP31 in seven individuals from three...

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Identifiers

PMID: 24011989
DOI: 10.1016/j.ajhg.2013.07.023
PMCID: PMC3769969

Genes

BCAP31

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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