RAB7A Chromosome 3
RAB7A, member RAS oncogene family
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What This Gene Does
RAB family members are small, RAS-related GTP-binding proteins that are important regulators of vesicular transport. Each RAB protein targets multiple proteins that act in exocytic / endocytic pathways. This gene encodes a RAB family member that regulates vesicle traffic in the late endosomes and also from late endosomes to lysosomes. This encoded protein is also involved in the cellular vacuolation of the VacA cytotoxin of Helicobacter pylori. Mutations at highly conserved amino acid residues in this gene have caused some forms of Charcot-Marie-Tooth (CMT) type 2 neuropathies. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
RAB, member RAS oncogene GTPases
Locus Type
gene with protein product
Location
3q21.3
Ensembl
ENSG00000075785
Associated Conditions (4)
Charcot-Marie-Tooth disease type 2B
Inborn genetic diseases
RAB7A-related disorder
Charcot-Marie-Tooth disease
Key Variants
RS141978327
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2B, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2B
Health Risk
RS147480945
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2B, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2B
Health Risk
RS1576304176
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2B, Charcot-Marie-Tooth disease type 2B
Health Risk
RS748832566
Conflicting classifications of pathogenicity
Inborn genetic diseases, Charcot-Marie-Tooth disease type 2B, Inborn genetic diseases
Health Risk
RS752824265
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2B, Charcot-Marie-Tooth disease type 2B
Health Risk
RS774054837
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2B, Charcot-Marie-Tooth disease type 2B
Health Risk
RS886057941
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2B, RAB7A-related disorder, Charcot-Marie-Tooth disease type 2B
Health Risk
RS963894786
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2B, Charcot-Marie-Tooth disease type 2B
Health Risk
RS121909078
Pathogenic
Charcot-Marie-Tooth disease type 2B, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2B
Health Risk
RS121909079
Pathogenic
Charcot-Marie-Tooth disease type 2B, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2B
Health Risk
RS121909080
Pathogenic
Charcot-Marie-Tooth disease type 2B, Charcot-Marie-Tooth disease, Inborn genetic diseases
Health Risk
RS121909081
Pathogenic
Charcot-Marie-Tooth disease type 2B, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2B
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141978327 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2B, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2B |
| RS147480945 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2B, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2B |
| RS1576304176 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2B, Charcot-Marie-Tooth disease type 2B |
| RS748832566 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Charcot-Marie-Tooth disease type 2B, Inborn genetic diseases |
| RS752824265 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2B, Charcot-Marie-Tooth disease type 2B |
| RS774054837 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2B, Charcot-Marie-Tooth disease type 2B |
| RS886057941 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2B, RAB7A-related disorder, Charcot-Marie-Tooth disease type 2B |
| RS963894786 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2B, Charcot-Marie-Tooth disease type 2B |
| RS121909078 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 2B, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2B |
| RS121909079 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 2B, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2B |
| RS121909080 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 2B, Charcot-Marie-Tooth disease, Inborn genetic diseases |
| RS121909081 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 2B, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2B |