Gene

ebp

ID
ZDB-GENE-040718-12
Name
EBP cholestenol delta-isomerase
Symbol
ebp Nomenclature History
Previous Names
  • zgc:91895 (1)
Type
protein_coding_gene
Location
Chr: 23 Mapping Details/Browsers
Description
Predicted to have C-8 sterol isomerase activity and steroid delta-isomerase activity. Predicted to be involved in cholesterol biosynthetic process. Predicted to localize to endoplasmic reticulum. Human ortholog(s) of this gene implicated in X-linked chondrodysplasia punctata 2 and chondrodysplasia punctata. Orthologous to human EBP (EBP cholestenol delta-isomerase).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
2 figures from Takada et al., 2017
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With ebp Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
MEND syndrome Alliance MEND syndrome 300960
X-linked chondrodysplasia punctata 2 Alliance Chondrodysplasia punctata, X-linked dominant 302960
Associated With ebp Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR033118 EXPERA domain
Family IPR007905 Emopamil-binding protein
Domain Details Per Protein
Protein Length Emopamil-binding protein EXPERA domain
UniProtKB:Q6DG98 232
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations