Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 10682
MIM: 300205
HGNC: 3133
Ensembl: ENSG00000147155
Variants:
dbSNP: 10682
ClinVar: 10682
TCGA: ENSG00000147155
COSMIC: EBP
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000147155 | ENST00000414061 | C9J719 |
| ENSG00000147155 | ENST00000446158 | C9JJ78 |
| ENSG00000147155 | ENST00000495186 | Q15125 |
| ENSG00000147155 | ENST00000495186 | A0A024QYX0 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32105736 | 2020 | Thermostabilization of Membrane Proteins by Consensus Mutation: A Case Study for a Fungal Δ8-7 Sterol Isomerase. | 7 |
| 32105736 | 2020 | Thermostabilization of Membrane Proteins by Consensus Mutation: A Case Study for a Fungal Δ8-7 Sterol Isomerase. | 7 |
| 31165728 | 2019 | Structural basis for human sterol isomerase in cholesterol biosynthesis and multidrug recognition. | 22 |
| 31381990 | 2019 | High-level heterologous expression of the human transmembrane sterol Δ8,Δ7-isomerase in Pichia pastoris. | 5 |
| 31165728 | 2019 | Structural basis for human sterol isomerase in cholesterol biosynthesis and multidrug recognition. | 22 |
| 31381990 | 2019 | High-level heterologous expression of the human transmembrane sterol Δ8,Δ7-isomerase in Pichia pastoris. | 5 |
| 24459067 | 2014 | An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene. | 4 |
| 24493593 | 2014 | Steroidomimetic aminomethyl spiroacetals as novel inhibitors of the enzyme Δ8,7-sterol isomerase in cholesterol biosynthesis. | 0 |
| 24700572 | 2014 | A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2. | 5 |
| 24915996 | 2014 | Conradi-Hünermann-Happle syndrome: a novel heterozygous missense mutation, c.204G>T (p.W68C). | 2 |
| 24459067 | 2014 | An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene. | 4 |
| 24493593 | 2014 | Steroidomimetic aminomethyl spiroacetals as novel inhibitors of the enzyme Δ8,7-sterol isomerase in cholesterol biosynthesis. | 0 |
| 24700572 | 2014 | A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2. | 5 |
| 24915996 | 2014 | Conradi-Hünermann-Happle syndrome: a novel heterozygous missense mutation, c.204G>T (p.W68C). | 2 |
| 24106871 | 2013 | Elastin binding protein and FKBP65 modulate in vitro self-assembly of human tropoelastin. | 6 |
Citation
Dessen P
EBP (EBP cholestenol delta-isomerase)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62709/ebp-(ebp-cholestenol-delta-isomerase)
