RAB7A RAB7A, member RAS oncogene family
Gene ID: 7879, updated on 8-Oct-2024Gene type: protein coding
Also known as: RAB7; CMT2B; PRO2706
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- Go to complete Gene record for RAB7A
- Go to Variation Viewer for RAB7A variants
Summary
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]
Associated conditions
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Description | Tests |
---|---|
Charcot-Marie-Tooth disease type 2B | See labs |
Genomic context
- Location:
- 3q21.3
- Sequence:
- Chromosome: 3; NC_000003.12 (128726183..128814798)
- Total number of exons:
- 6
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for RAB7A variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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