Gene Symbol | AAGAB |
Entrez Gene ID | 79719 |
Full Name | alpha and gamma adaptin binding protein |
Synonyms | KPPP1,PPKP1,PPKP1A,p34 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Keratoderma, palmoplantar, punctate type IA, 148600 (3) |