GBF1 Chromosome 10
Golgi brefeldin A resistant guanine nucleotide exchange factor 1
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What This Gene Does
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]
Gene Info
Gene Group
Sec7 family
Locus Type
gene with protein product
Location
10q24.32
Ensembl
ENSG00000107862
Associated Conditions (4)
Motor axonal neuropathy
Charcot-Marie-Tooth Disease
axonal
type 2GG
Key Variants
RS150255203
Conflicting classifications of pathogenicity
Health Risk
RS1462360035
Likely pathogenic
Health Risk
RS1299997613
Pathogenic/Likely pathogenic
Motor axonal neuropathy, Charcot-Marie-Tooth Disease, axonal
Health Risk
RS2060050669
Pathogenic/Likely pathogenic
Motor axonal neuropathy, Charcot-Marie-Tooth Disease, axonal
Health Risk
RS2060161763
Pathogenic/Likely pathogenic
Motor axonal neuropathy, Charcot-Marie-Tooth Disease, axonal
Health Risk
RS2060541274
Pathogenic/Likely pathogenic
Motor axonal neuropathy, Charcot-Marie-Tooth Disease, axonal
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS150255203 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1462360035 | Health Risk | Likely pathogenic | — |
| RS1299997613 | Health Risk | Pathogenic/Likely pathogenic | Motor axonal neuropathy, Charcot-Marie-Tooth Disease, axonal |
| RS2060050669 | Health Risk | Pathogenic/Likely pathogenic | Motor axonal neuropathy, Charcot-Marie-Tooth Disease, axonal |
| RS2060161763 | Health Risk | Pathogenic/Likely pathogenic | Motor axonal neuropathy, Charcot-Marie-Tooth Disease, axonal |
| RS2060541274 | Health Risk | Pathogenic/Likely pathogenic | Motor axonal neuropathy, Charcot-Marie-Tooth Disease, axonal |