Ebp - EBP, cholestenol delta-isomerase Gene

Species: Rattus norvegicus

Gene Type: protein coding
Gene ID: 117278

Summary

Enables C-8 sterol isomerase activity. Involved in Cholesterol biosynthetic process. Located in intracellular membrane-bounded organelle. Human ortholog(s) of this gene implicated in MEND syndrome; X-linked chondrodysplasia punctata 2; and chondrodysplasia punctata. Orthologous to human EBP (EBP cholestenol delta-isomerase). [provided by Alliance of Genome Resources, Apr 2022]

Ebp Products (1)

mRNA Protein Name
NM_057137.1 NP_476478.1 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase
Molecular Function GO Annotation Evidence References Source
enables C-8 sterol isomerase activity IDA
IDA: Inferred from direct assay
11171067 RGD
Biological Process GO Annotation Evidence References Source
involved in cholesterol biosynthetic process IDA
IDA: Inferred from direct assay
11171067 RGD
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase

  • D8-D7 sterol isomerase

  • cholestenol Delta-isomerase

  • delta(8)-Delta(7) sterol isomerase

  • emopamil binding protein (sterol isomerase)

  • emopamil-binding protein

  • phenylalkylamine Ca2+ antagonist (emopamil) binding protein

  • sterol 8-isomerase

Orthologs Information

Species Symbol Source ID
Homo sapiens Ebp NCBI NCBI:10682