AAGAB

Function

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

Involvement in disease

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Tissue Specificity

Widely expressed, including in skin and keratinocytes, with highest levels in adrenal gland, rectum and thymus.

Cellular localization

• Cytoplasm
• Cytosol

Alternative names

Alpha- and gamma-adaptin-binding protein p34, AAGAB

Database links

swissprot:Q6PD74 entrezGene:79719 entrezGene:79712 swissprot:Q4AE62 omim:614888