7-dehydrocholesterol reductase

7-dehydrocholesterol reductase
Properties of human protein
Mass / length primary structure	54.5 kDa / 475 amino acids
Secondary to quaternary structure	multipass membrane protein (ER)
Identifier
Gene name	DHCR7
External IDs	OMIM : 602858 ; UniProt : Q9UBM7 ;
Enzyme classification
EC, category	1.3.1.21 , oxidoreductase
Response type	Hydrogenation
Substrate	7-dehydrocholesterol + NADH / H +
Products	Cholesterol + NAD +
Occurrence
Parent taxon	Eukaryotes
	Orthologue

The 7-dehydrocholesterol reductase (abbreviated DHCR7 or alternatively: 7-DHC reductase , sterol Delta (7) reductase , D7SR ) is an enzyme in eukaryotes (EC 1.3.1.21). It mediates the formation of cholesterol from 7-dehydrocholesterol and is therefore an important last enzyme in cholesterol biosynthesis . In humans, DHCR7 is mainly expressed in the adrenal glands , liver , testes and in the brain . It is localized there in the membrane of the endoplasmic reticulum . Mutations in DHCR7 - gene with reduced enzyme activity lead to Smith-Lemli-Opitz syndrome , a characteristic congenital malformation Retardierungssyndrom which biochemically associated with decreased levels of cholesterol and increased 7-Dehydrocholesterolwerten.

Catalyzed reaction

+ NADH / H ⁺ ⇔
⇔ + NAD ⁺

7-dehydrocholesterol is hydrogenated to cholesterol.

genetics

The gene for DHCR7 on chromosome segment 11q13.2-11q13.5 encodes a protein with 475 amino acids (54.5 kDa).

Individual evidence

↑ Homologues at inParanoid
↑ BU Fitzky, M. Witsch-Baumgartner, M. Erdel, JN Lee, YK Paik, H. Glos, G. Utermann, FF Moebius: Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome . In: Proceedings of the National Academy of Sciences . tape 95 , no. 14 , July 7, 1998, ISSN 0027-8424 , p. 8181-8186 , PMID 9653161 .
↑ GS Tint, M. Irons, ER Elias, AK Batta, R. Frieden, TS Chen, G. Salen: Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome . In: The New England Journal of Medicine . tape 330 , no. 2 , 1994, ISSN 0028-4793 , pp. 107-113 , doi : 10.1056 / NEJM199401133300205 , PMID 8259166 .
↑ UniProt Q9UBM7
↑ Fabian F. Moebius, Barbara U. Fitzky, Joon No Lee, Young-Ki Paik, Hartmut Glossmann : Molecular cloning and expression of the human Δ7-sterol reductase . In: Proceedings of the National Academy of Sciences . tape 95 , no. 4 , February 17, 1998, ISSN 0027-8424 , p. 1899-1902 , PMID 9465114 , PMC 19210 (free full text).

Web links

Wikibooks: Cholesterol Biosynthesis - Learning and Teaching Materials

DHCR7 to Entrez (English)
HSA - 1717 in the Kyoto Encyclopedia of Genes and Genomes (English)
DHCR7 on Map No. G10 H10 of the Biochemical Pathways

[1] Homologues at inParanoid

[2] BU Fitzky, M. Witsch-Baumgartner, M. Erdel, JN Lee, YK Paik, H. Glos, G. Utermann, FF Moebius: Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome . In: Proceedings of the National Academy of Sciences . tape 95 , no. 14 , July 7, 1998, ISSN 0027-8424 , p. 8181-8186 , PMID 9653161 .

[3] GS Tint, M. Irons, ER Elias, AK Batta, R. Frieden, TS Chen, G. Salen: Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome . In: The New England Journal of Medicine . tape 330 , no. 2 , 1994, ISSN 0028-4793 , pp. 107-113 , doi : 10.1056 / NEJM199401133300205 , PMID 8259166 .

[4] UniProt Q9UBM7

[Moebius-1998-5] Fabian F. Moebius, Barbara U. Fitzky, Joon No Lee, Young-Ki Paik, Hartmut Glossmann : Molecular cloning and expression of the human Δ7-sterol reductase . In: Proceedings of the National Academy of Sciences . tape 95 , no. 4 , February 17, 1998, ISSN 0027-8424 , p. 1899-1902 , PMID 9465114 , PMC 19210 (free full text).