Emopamil binding protein
| emopamil binding protein (sterol isomerase) | |||||||
|---|---|---|---|---|---|---|---|
| Identifiers | |||||||
| Symbol | EBP | ||||||
| Alt. symbols | CDPX2 | ||||||
| NCBI gene | 10682 | ||||||
| HGNC | 3133 | ||||||
| OMIM | 300205 | ||||||
| RefSeq | NM_006579 | ||||||
| UniProt | Q15125 | ||||||
| Other data | |||||||
| Locus | Chr. X p11.23-p11.22 | ||||||
| |||||||
Emopamil binding protein is a protein that in humans is encoded by the EBP gene, located on the X chromosome.[5]
Clinical significance
Mutations in EBP cause Conradi–Hünermann syndrome.
See also
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000147155 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031168 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Guggenberger C, Ilgen D, Adamski J (May 2007). "Functional analysis of cholesterol biosynthesis by RNA interference". J. Steroid Biochem. Mol. Biol. 104 (3–5): 105–9. doi:10.1016/j.jsbmb.2007.03.001. PMID 17498944.
External links
- GeneReviews/NCBI/NIH/UW entry on Chondrodysplasia Punctata 2, X-Linked, Conradi-Hünermann Syndrome, Happle Syndrome
- EBP+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
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