Property Summary

NCBI Gene PubMed Count 27
PubMed Score 15.33
PubTator Score 133.91

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
astrocytic glioma -1.300 0.035
psoriasis -1.800 0.000
intraductal papillary-mucinous carcinoma... 1.400 0.001
intraductal papillary-mucinous neoplasm ... 1.900 0.001
lung cancer 1.400 0.000
ovarian cancer 1.800 0.000

Gene RIF (13)

PMID Text
25771163 we report two unrelated Japanese punctate palmoplantar keratoderma type 1 pedigrees harboring the novel AAGAB mutation c.191_194del-CAAA.
24588319 results reveal one novel and two recurrent mutations in AAGAB providing further evidence of its role in the pathogenesis of palmoplantar keratoderma.
24573067 Case Report: novel AAGAB mutation in punctate palmoplantar keratoderma type I.
24390136 families with type 1 punctate palmoplantar keratoderma have distinct mutations in AAGAB
24289292 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.
24162853 case Report: deletion mutation in AAGAB causing punctate palmoplantar keratoderma in Chinese family.
23743648 analysis of the AAGAB genotype in 12 Punctate palmoplantar keratoderma (PPKP1) patients from 6 independent kindreds of Scottish, English, and Mexican ancestry
23633024 We identified six mutations in the AAGAB gene in Chinese punctate palmoplantar keratoderma patients.
23563198 We report the characteristics of a heterozygous AAGAB splice-site mutation in primary keratinocytes.
23448244 Results identify novel loss-of-function mutation within AAGAB associated with PPPK was identified from two Chinese pedigrees.
More...

AA Sequence

MAAGVPCALVTSCSSVFSGDQLVQHILGTEDLIVEVTSNDAVRFYPWTIDNKYYSADINLCVVPNKFLVT      1 - 70
AEIAESVQAFVVYFDSTQKSGLDSVSSWLPLAKAWLPEVMILVCDRVSEDGINRQKAQEWCIKHGFELVE     71 - 140
LSPEELPEEDDDFPESTGVKRIVQALNANVWSNVVMKNDRNQGFSLLNSLTGTNHSIGSADPCHPEQPHL    141 - 210
PAADSTESLSDHRGGASNTTDAQVDSIVDPMLDLDIQELASLTTGGGDVENFERLFSKLKEMKDKAATLP    211 - 280
HEQRKVHAEKVAKAFWMAIGGDRDEIEGLSSDEEH                                       281 - 315
//

Text Mined References (33)

PMID Year Title
25919143 2015 Low-dose etretinate shows promise in management of punctate palmoplantar keratoderma type 1: Case report and review of the published work.
25771163 2015 Two Japanese familial cases of punctate palmoplantar keratoderma caused by a novel AAGAB mutation, c.191_194delCAAA.
25416956 2014 A proteome-scale map of the human interactome network.
24588319 2014 New and recurrent AAGAB mutations in punctate palmoplantar keratoderma.
24573067 2015 Punctate palmoplantar keratoderma type 1: a novel AAGAB mutation and efficacy of etretinate.
24390136 2014 Identification of distinct mutations in AAGAB in families with type 1 punctate palmoplantar keratoderma.
24289292 2014 A novel splice-site mutation in the AAGAB gene segregates with hereditary punctate palmoplantar keratoderma and congenital dysplasia of the hip in a large family.
24162853 2014 A novel 5-bp deletion mutation in AAGAB gene in a Chinese family with punctate palmoplantar keratoderma.
23743648 2013 Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling.
23633024 2013 Six mutations in AAGAB confirm its pathogenic role in Chinese punctate palmoplantar keratoderma patients.
More...