7-Dehydrocholesterol reductase

DHCR7
Identifiers
Aliases	DHCR7, SLOS, 7-dehydrocholesterol reductase
External IDs	OMIM: 602858; MGI: 1298378; HomoloGene: 1042; GeneCards: DHCR7; OMA:DHCR7 - orthologs
EC number	1.3.1.21
Gene location (Human)
Chr.	Chromosome 11 (human)
End	71,452,868 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	143,402,147 bp
RNA expression pattern
	Top expressed in
	right lobe of liver; ; right adrenal cortex; ; oocyte; ; islet of Langerhans; ; left adrenal cortex; ; secondary oocyte; ; skin of leg; ; C1 segment; ; skin of abdomen; ; corpus epididymis;
	Top expressed in
	adrenal gland; ; lip; ; cumulus cell; ; motor neuron; ; left lobe of liver; ; skin of external ear; ; Gonadal ridge; ; left colon; ; condyle; ; ectoderm;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor; oxidoreductase activity; NADP binding; 7-dehydrocholesterol reductase activity; sterol delta7 reductase activity;
Cellular component	integral component of membrane; endoplasmic reticulum membrane; membrane; intracellular membrane-bounded organelle; integral component of endoplasmic reticulum membrane; endoplasmic reticulum; nuclear outer membrane; cytosol;
Biological process	cell differentiation; steroid metabolic process; sterol biosynthetic process; multicellular organism growth; lung development; lipid metabolism; cholesterol metabolic process; post-embryonic development; blood vessel development; regulation of cell population proliferation; cholesterol biosynthetic process via lathosterol; cholesterol biosynthetic process via desmosterol; steroid biosynthetic process; cholesterol biosynthetic process; brassinosteroid biosynthetic process; regulation of cholesterol biosynthetic process;
	Sources:Amigo / QuickGO
Orthologs
	1717
	13360
	ENSG00000172893
	ENSMUSG00000058454
	Q9UBM7
	O88455
	NM_001163817; NM_001360
NM_007856; NM_001382498; NM_001382499; NM_001382500; NM_001382501;
	NM_001382502; NM_001382503
	NP_001157289; NP_001351
NP_031882; NP_001369427; NP_001369428; NP_001369429; NP_001369430;
	NP_001369431; NP_001369432
	Wikidata
View/Edit Human	View/Edit Mouse

7-Dehydrocholesterol reductase, also known as DHCR7, is a protein that in humans is encoded by the DHCR7 gene.^[5]^[6]^[7]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000172893 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000058454 – 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.
^ "Entrez Gene: DHCR7 7-dehydrocholesterol reductase".
^ Moebius FF, Fitzky BU, Lee JN, Paik YK, Glossmann H (Feb 1998). "Molecular cloning and expression of the human delta7-sterol reductase". Proceedings of the National Academy of Sciences of the United States of America. 95 (4): 1899–902. Bibcode:1998PNAS...95.1899M. doi:10.1073/pnas.95.4.1899. PMC 19210. PMID 9465114.
^ Wassif CA, Maslen C, Kachilele-Linjewile S, Lin D, Linck LM, Connor WE, Steiner RD, Porter FD (Jul 1998). "Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome". American Journal of Human Genetics. 63 (1): 55–62. doi:10.1086/301936. PMC 1377256. PMID 9634533.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000172893 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000058454 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: DHCR7 7-dehydrocholesterol reductase".

[pmid9465114-6] Moebius FF, Fitzky BU, Lee JN, Paik YK, Glossmann H (Feb 1998). "Molecular cloning and expression of the human delta7-sterol reductase". Proceedings of the National Academy of Sciences of the United States of America. 95 (4): 1899–902. Bibcode:1998PNAS...95.1899M. doi:10.1073/pnas.95.4.1899. PMC 19210. PMID 9465114.

[pmid9634533-7] Wassif CA, Maslen C, Kachilele-Linjewile S, Lin D, Linck LM, Connor WE, Steiner RD, Porter FD (Jul 1998). "Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome". American Journal of Human Genetics. 63 (1): 55–62. doi:10.1086/301936. PMC 1377256. PMID 9634533.

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