AAGAB Antibody

1. Identical AAGAB genotypes presented a very broad interfamilial and intrafamilial variability of phenotypes in punctate palmoplantar keratoderma type 1 (Buschke-Fischer-Brauer syndrome). PMID: 26608363
2. we report two unrelated Japanese punctate palmoplantar keratoderma type 1 pedigrees harboring the novel AAGAB mutation c.191_194del-CAAA. PMID: 25771163
3. Case Report: novel AAGAB mutation in punctate palmoplantar keratoderma type I. PMID: 24573067
4. results reveal one novel and two recurrent mutations in AAGAB providing further evidence of its role in the pathogenesis of palmoplantar keratoderma. PMID: 24588319
5. case Report: deletion mutation in AAGAB causing punctate palmoplantar keratoderma in Chinese family. PMID: 24162853
6. This observation suggests either the existence of a CDH-associated gene in the vicinity of AAGAB, or a hitherto unrecognized role for p34 during skeletal development. PMID: 24289292
7. families with type 1 punctate palmoplantar keratoderma have distinct mutations in AAGAB PMID: 24390136
8. Results identify novel loss-of-function mutation within AAGAB associated with PPPK was identified from two Chinese pedigrees. PMID: 23448244
9. analysis of the AAGAB genotype in 12 Punctate palmoplantar keratoderma (PPKP1) patients from 6 independent kindreds of Scottish, English, and Mexican ancestry PMID: 23743648
10. We identified six mutations in the AAGAB gene in Chinese punctate palmoplantar keratoderma patients. PMID: 23633024
11. We report the characteristics of a heterozygous AAGAB splice-site mutation in primary keratinocytes. PMID: 23563198
12. Identification of two heterozygous nonsense mutations-c.370C>T (p.Arg124) and c.481C>T (p.Arg161)-in AAGAB in patients with punctate palmoplantar keratoderma type Buschke-Fischer-Brauer. PMID: 23000146
13. We hypothesize that AAGAB (p34) deficiency may impair endocytic recycling of growth factor receptors such as EGFR, leading to increased signaling and cellular proliferation PMID: 23064416

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HGNC: 25662

OMIM: 148600

KEGG: hsa:79719

STRING: 9606.ENSP00000261880

UniGene: Hs.254642