Property Summary

NCBI Gene PubMed Count 29
PubMed Score 97.07
PubTator Score 477.77

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (6)

Expression

Synonym

Accession Q15125 Q6FGL3 Q6IBI9
Symbols CPX
CHO2
CPXD
MEND
CDPX2

Gene

EBP

PANTHER Protein Class (1)

  Ortholog (9)

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
//

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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