VAPB VAMP associated protein B and C
Gene ID: 9217, updated on 3-Nov-2024Gene type: protein coding
Also known as: ALS8; VAP-B; VAMP-B
- See all available tests in GTR for this gene
- Go to complete Gene record for VAPB
- Go to Variation Viewer for VAPB variants
Summary
The protein encoded by this gene is a type IV membrane protein found in plasma and intracellular vesicle membranes. The encoded protein is found as a homodimer and as a heterodimer with VAPA. This protein also can interact with VAMP1 and VAMP2 and may be involved in vesicle trafficking. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Adult-onset proximal spinal muscular atrophy, autosomal dominant | not available |
Amyotrophic lateral sclerosis type 8 | not available |
Genomic context
- Location:
- 20q13.32
- Sequence:
- Chromosome: 20; NC_000020.11 (58389229..58451101)
- Total number of exons:
- 7
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for VAPB variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ALSoD/VAPB genetic mutations
- 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
- VAPB database
- Variation ViewerRelated Variants
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