AAGAB Gene

The AAGAB gene (AAGAB is the acronym for Alpha And Gamma Adaptin Binding Protein) is a protein coding gene located on chromosome 15q23. Alternatively spliced transcript variants have been found for this gene.

Diseases associated with AAGAB include:

Keratosis palmoplantaris papulosa with mutation in AAGAB (Keratosis palmoplantaris papulosa).

The protein encoded by this gene interacts with the gamma-adaptin and alpha-adaptin subunits of complexes involved in clathrin vesicle assembly. AAGAB (p34), interacts with the gamma-adaptin subunit of AP1 and with the alpha-adaptin subunit of AP2. Giehl et al. (2012) cloned full-length AAGAB. AAGAB is expressed in hair follicle cells, in keratinocytes, lymphocytes, and other tissues.

Immunohistochemical analysis of normal palmoplantar skin revealed granular cytoplasmic AAGAB staining, particularly in the stratum basale and the first suprabasal cell layers of the stratum spinosum. In the upper layers of the stratum spinosum, the staining was much weaker and localized only around the nuclei of a few keratinocytes. Dermal vessels were also AAGAB-positive.

1. Dinani N et al (2017) Mutations in AAGAB underlie autosomal dominant punctate palmoplantar keratoderma. Clin Exp Dermatol 42: 316-319
2. El Amri I et al (2010) Clinical and genetic characteristics of Buschke-Fischer-Brauer's disease in a Tunisian family. Ann Derm Venereol 137: 269-275
3. Giehl KA et al (2012) Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer. Am J Hum Genet 91: 754-759
4. Page LJ et al (1999) Gamma-synergine: an EH domain-containing protein that interacts with gamma-adaptin. J Cell Biol 146: 993-1004
5. Pohler E et al.(2012) Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. Nature Genet 44: 1272-1276