ASAP1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1
Gene ID: 50807, updated on 10-Oct-2024Gene type: protein coding
Also known as: PAP; PAG2; AMAP1; DDEF1; ZG14P; CENTB4
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- Go to complete Gene record for ASAP1
- Go to Variation Viewer for ASAP1 variants
Summary
This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 and ARF5, and lesser for ARF6. This gene maybe involved in regulation of membrane trafficking and cytoskeleton remodeling. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20. GeneReviews: Not available |
Genomic context
- Location:
- 8q24.21-q24.22
- Sequence:
- Chromosome: 8; NC_000008.11 (130052104..130443674, complement)
- Total number of exons:
- 41
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for ASAP1 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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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