Property Summary

NCBI Gene PubMed Count 29
PubMed Score 97.07
PubTator Score 477.77

Knowledge Summary

Patent

No data available

Expression

Protein-protein Interaction (3)

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.
17498944 Emopamil binding protein (EBP)-shRNA sequences were designed and tested for their effectiveness.
17378690 Molecular analysis of EBP mutations were made.

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.
20949533 2010 A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
18660489 2008 Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.
18573709 Two novel EBP mutations in Conradi-Hünermann-Happle syndrome.
18176751 2008 Conradi-Hünermann-Happle syndrome (X-linked dominant chondrodysplasia punctata) confirmed by plasma sterol and mutation analysis.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17949453 2007 Novel EBP gene mutations in Conradi-Hünermann-Happle syndrome.
17498944 2007 Functional analysis of cholesterol biosynthesis by RNA interference.
17378690 A severely affected female infant with x-linked dominant chondrodysplasia punctata: a case report and a brief review of the literature.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15772651 2005 The DNA sequence of the human X chromosome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12760743 2003 Cloning of an emopamil-binding protein (EBP)-like protein that lacks sterol delta8-delta7 isomerase activity.
12569389 2003 SR31747A is a sigma receptor ligand exhibiting antitumoural activity both in vitro and in vivo.
12503101 2003 Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP.
12483303 2003 Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11493318 2001 Identification of a novel mutation in 3beta-hydroxysteroid-Delta8-Delta7-isomerase in a case of Conradi-Hünermann-Happle syndrome.
10942423 2000 The Conradi-Hünermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism.
10406945 1999 Colocalization of sterol isomerase and sigma(1) receptor at endoplasmic reticulum and nuclear envelope level.
10391219 1999 Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome.
10391218 1999 Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com.
9894009 1999 Histidine77, glutamic acid81, glutamic acid123, threonine126, asparagine194, and tryptophan197 of the human emopamil binding protein are required for in vivo sterol delta 8-delta 7 isomerization.
8938429 1996 Long-range map of a 3.5-Mb region in Xp11.23-22 with a sequence-ready map from a 1.1-Mb gene-rich interval.
8798407 1996 Emopamil-binding protein, a mammalian protein that binds a series of structurally diverse neuroprotective agents, exhibits delta8-delta7 sterol isomerase activity in yeast.
7706302 1995 Phenylalkylamine Ca2+ antagonist binding protein. Molecular cloning, tissue distribution, and heterologous expression.