GBF1

Chr 10AD

golgi brefeldin A resistant guanine nucleotide exchange factor 1

Also known as: ARF1GEF, CMT2GG, CMTDI2, CMTDIA

NCBI Gene: 8729 ENSG00000107862 UniProt: Q92538 OMIM: 603698

This gene encodes a guanine nucleotide exchange factor that activates ARF proteins to regulate vesicular trafficking between the endoplasmic reticulum and Golgi apparatus, and is required for proper Golgi assembly. Mutations cause autosomal dominant Charcot-Marie-Tooth disease, axonal type 2GG, a peripheral neuropathy. The gene is highly constrained against loss-of-function variants (LOEUF 0.551), suggesting that partial loss of protein function may be sufficient to cause disease.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the Sec7 domain family. The encoded protein is a guanine nucleotide exchange factor that regulates the recruitment of proteins to membranes by mediating GDP to GTP exchange. The encoded protein is localized to the Golgi apparatus and plays a role in vesicular trafficking by activating ADP ribosylation factor 1. The encoded protein has also been identified as an important host factor for viral replication. Multiple transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]

OMIM ResearchGenerating clinical summary…