AAGAB gene

alpha- and gamma-adaptin binding protein

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

May be involved in endocytic recycling of growth factor receptors such as EGFR.

From NCBI Gene:

  • Keratosis palmoplantaris papulosa

From UniProt:

Keratoderma, palmoplantar, punctate 1A (PPKP1A): An autosomal dominant dermatological disorder characterized by multiple hyperkeratotic, centrally indented, papules that develop in early adolescence, or later, and are irregularly distributed on the palms and soles (other palmoplantar keratoses have mostly diffuse hyperkeratinization). In mechanically irritated areas, confluent plaques can be found. Interfamilial and intrafamilial severity shows broad variation. In some cases, PPKP1 is associated with the development of early- and late-onset malignancies, including squamous cell carcinoma. [MIM:148600]

Cytogenetic Location: 15q23, which is the long (q) arm of chromosome 15 at position 23

Molecular Location: base pairs 67,200,675 to 67,255,198 on chromosome 15 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 15q23, which is the long (q) arm of chromosome 15 at position 23
  • KPPP1
  • p34
  • PPKP1
  • PPKP1A