VAPB VAMP associated protein B and C

Gene ID: 9217, updated on 7-Apr-2024
Gene type: protein coding
Also known as: ALS8; VAP-B; VAMP-B

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 MedGen: C1854058OMIM: 182980GeneReviews: Not available	See labs
Amyotrophic lateral sclerosis type 8 MedGen: C1837728OMIM: 608627GeneReviews: Amyotrophic Lateral Sclerosis Overview	See labs

Genomic context

Location:: 20q13.32

Sequence:: Chromosome: 20; NC_000020.11 (58389229..58451101)

Total number of exons:: 7

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

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

Links

ALSoD/VAPB genetic mutations
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
VAPB database
Variation Viewer
Related Variants

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