AAGAB Antibody – Mouse Polyclonal

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]

Function: May be involved in endocytic recycling of growth factor receptors such as EGFR. Ref.11

Subunit structure: Associated with AP-1 and AP-2 complexes. Ref.11

Subcellular location: Cytoplasm › cytosol Ref.10 Ref.11.

Tissue specificity: Widely expressed, including in skin and keratinocytes, with highest levels in adrenal gland, rectum and thymus. Ref.10 Ref.11

Involvement in disease: Keratoderma, palmoplantar, punctate 1A (PPKP1A) [MIM:148600]: 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10 Ref.11