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The protein encoded by AAGAB interacts with the gamma-adaptin and alpha-adaptin subunits of complexes involved in clathrin-coated vesicle trafficking.
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Identical AAGAB genotypes presented a very broad interfamilial and intrafamilial variability of phenotypes in punctate palmoplantar keratoderma type 1 (Buschke-Fischer-Brauer syndrome).
we report two unrelated Japanese punctate palmoplantar keratoderma type 1 pedigrees harboring the novel AAGAB mutation c.191_194del-CAAA.
Case Report: novel AAGAB mutation in punctate palmoplantar keratoderma type I.
results reveal one novel and two recurrent mutations in AAGAB providing further evidence of its role in the pathogenesis of palmoplantar keratoderma.
case Report: deletion mutation in AAGAB causing punctate palmoplantar keratoderma in Chinese family.
This observation suggests either the existence of a CDH (show CHDH Antibodies)-associated gene in the vicinity of AAGAB, or a hitherto unrecognized role for p34 (show CCNH Antibodies) during skeletal development.
families with type 1 punctate palmoplantar keratoderma have distinct mutations in AAGAB
Results identify novel loss-of-function mutation within AAGAB associated with PPPK was identified from two Chinese pedigrees.
analysis of the AAGAB genotype in 12 Punctate palmoplantar keratoderma (PPKP1) patients from 6 independent kindreds of Scottish, English, and Mexican ancestry
We identified six mutations in the AAGAB gene in Chinese punctate palmoplantar keratoderma patients.
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.
alpha- and gamma-adaptin-binding protein p34