Property Summary

NCBI Gene PubMed Count 29
Grant Count 47
R01 Count 28
Funding $8,253,000.07
PubMed Score 97.07
PubTator Score 477.77

Knowledge Summary

Patent

No data available

Expression

Gene RIF (12)

PMID Text
24915996 Mutation analysis revealed a heterozygous novel missense mutation, c.204G>T (p.W68C), in exon 2.
24700572 This study expands the current phenotypic spectrum of males with hypomorphic EBP mutations and supports to the hypothesis that there exists an X-linked recessive entity independent of CDPX2.
24493593 Report steroidomimetic aminomethyl spiroacetals as novel inhibitors of the enzyme Delta8,7-sterol isomerase in cholesterol biosynthesis.
24459067 With non-mosaic EBP mutations in males.
24106871 Elastin binding protein and FKBP65 modulate the kinetics of self-assembly of tropoelastin in an in vitro system.
22121851 Results show a clear relationship between abnormal sterol profile and the EBP gene mutation
21931045 postzygotic mosaicism on an ichthyosiform skin lesion in the mother of a girl with X-linked dominant chondrodysplasia punctata associated with a novel EBP mutation.
18660489 Observational study of gene-disease association. (HuGE Navigator)
18573709 two unrelated Thai girls with chondrodysplasia punctata type 2. Mutation analysis by PCR-sequencing the entire coding region of emopamil binding protein(EBP) successfully revealed two potentially pathogenic, novel mutations, c.616G-->T and c.382delC.
17949453 We found two novel (3G-->T and 419-422delTTCT) and one known mutation in the EBP gene. The strong phenotypic variability in our patients suggests that there is no clear genotype-phenotype correlation.
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AA Sequence

MTTNAGPLHPYWPQHLRLDNFVPNDRPTWHILAGLFSVTGVLVVTTWLLSGRAAVVPLGTWRRLSLCWFA      1 - 70
VCGFIHLVIEGWFVLYYEDLLGDQAFLSQLWKEYAKGDSRYILGDNFTVCMETITACLWGPLSLWVVIAF     71 - 140
LRQHPLRFILQLVVSVGQIYGDVLYFLTEHRDGFQHGELGHPLYFWFYFVFMNALWLVLPGVLVLDAVKH    141 - 210
LTHAQSTLDAKATKAKSKKN                                                      211 - 230
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Text Mined References (36)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25814754 Emopamil binding protein mutation in conradi-hünermann-happle syndrome representing plaque-type psoriasis.
24915996 Conradi-Hünermann-Happle syndrome: a novel heterozygous missense mutation, c.204G>T (p.W68C).
24700572 2014 A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2.
24493593 2014 Steroidomimetic aminomethyl spiroacetals as novel inhibitors of the enzyme ?8,7-sterol isomerase in cholesterol biosynthesis.
24459067 2014 An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene.
24106871 2013 Elastin binding protein and FKBP65 modulate in vitro self-assembly of human tropoelastin.
22121851 2012 Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.
21931045 2011 Evidence of postzygotic mosaicism in a transmitted form of Conradi-Hunermann-Happle syndrome associated with a novel EBP mutation.
21269460 2011 Initial characterization of the human central proteome.
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