Gene Symbol: AAGAB
Description: alpha and gamma adaptin binding protein
Alias: KPPP1, PPKP1, PPKP1A, p34, alpha- and gamma-adaptin-binding protein p34
Page L, Sowerby P, Lui W, Robinson M. Gamma-synergin: an EH domain-containing protein that interacts with gamma-adaptin. J Cell Biol. 1999;146:993-1004 pubmed
..Two novel, ubiquitously expressed proteins were found: p34, which interacts with both gamma-adaptin and alpha-adaptin, and gamma-synergin, an alternatively spliced protein ..
Li M, Dai X, Cheng R, Yang L, Yao Z, Liu J. A novel 5-bp deletion mutation in AAGAB gene in a Chinese family with punctate palmoplantar keratoderma. Acta Derm Venereol. 2014;94:339-40 pubmed publisher
Furniss M, Higgins C, Martinez Mir A, Horev L, Petukhova L, Stanimirović A, et al
. Identification of distinct mutations in AAGAB in families with type 1 punctate palmoplantar keratoderma. J Invest Dermatol. 2014;134:1749-1752 pubmed publisher
Nomura T, Moriuchi R, Takeda M, Suzuki S, Kikuchi K, Ito T, et al
. Low-dose etretinate shows promise in management of punctate palmoplantar keratoderma type 1: Case report and review of the published work. J Dermatol. 2015;42:889-92 pubmed publisher
..Loss-of-function mutations in AAGAB have recently been reported as a cause of PPKP1...
Giehl K, Eckstein G, Pasternack S, Praetzel Wunder S, Ruzicka T, Lichtner P, et al
. Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer. Am J Hum Genet. 2012;91:754-9 pubmed publisher
..33-q23 two heterozygous nonsense mutations-c.370C>T (p.Arg124(?)) and c.481C>T (p.Arg161(?))-in AAGAB in all affected individuals...
Giehl K, Herzinger T, Wolff H, SÃ¡rdy M, von BraunmÃ¼hl T, Dekeuleneer V, et al
. Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability. Acta Derm Venereol. 2016;96:468-72 pubmed publisher
Punctate palmoplantar keratoderma (PPKP1; Buschke-Fischer-Brauer) is a rare autosomal dominant inherited skin disease characterized by multiple hyperkeratotic papules involving the palms and soles...
Li M, Yang L, Shi H, Guo B, Dai X, Yao Z, et al
. Loss-of-function mutation in AAGAB in Chinese families with punctuate palmoplantar keratoderma. Br J Dermatol. 2013;169:168-71 pubmed publisher
..Recently, mutations in the genes ?- and ?-adaptin-binding protein p34 (AAGAB) and collagen, type XIV, ?1 (COL14A1) have been reported to cause PPPK...
Kiritsi D, Chmel N, Arnold A, Jakob T, Bruckner Tuderman L, Has C. Novel and recurrent AAGAB mutations: clinical variability and molecular consequences. J Invest Dermatol. 2013;133:2483-2486 pubmed publisher
Cui H, Gao M, Wang W, Xiao R, Chen G, Zhang Q, et al
. Six mutations in AAGAB confirm its pathogenic role in Chinese punctate palmoplantar keratoderma patients. J Invest Dermatol. 2013;133:2631-2634 pubmed publisher