AAGAB alpha and gamma adaptin binding protein
Gene ID: 79719, updated on 2-Nov-2024Gene type: protein coding
Also known as: p34; KPPP1; PPKP1; PPKP1A
- See all available tests in GTR for this gene
- Go to complete Gene record for AAGAB
- Go to Variation Viewer for AAGAB variants
Summary
The protein encoded by this gene interacts with the gamma-adaptin and alpha-adaptin subunits of complexes involved in clathrin-coated vesicle trafficking. Mutations in this gene are associated with type I punctate palmoplantar keratoderma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Palmoplantar keratoderma, punctate type 1A | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2013-02-28) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2013-02-28) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 15q23
- Sequence:
- Chromosome: 15; NC_000015.10 (67200667..67255198, complement)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for AAGAB 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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