Gene: AAGAB

Alternate names for this Gene: KPPP1|PPKP1|PPKP1A|p34

Gene 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.

Gene is located in Chromosome: 15

Location in Chromosome : 15q23

Description of this Gene: alpha and gamma adaptin binding protein

Type of Gene: protein-coding

rs7173826 in AAGAB gene and Cardiovascular Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.