InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DHCR7

Summary

InnateDB Protein

IDBP-294629.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DHCR7

Protein Name

7-dehydrocholesterol reductase

Synonyms

SLOS;

Species

Homo sapiens

Ensembl Protein

ENSP00000384739

InnateDB Gene

IDBG-62563 (DHCR7)

Protein Structure

UniProt Annotation

Function

Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC).

Subcellular Localization

Endoplasmic reticulum membrane {ECO:0000269PubMed:9878250}; Multi-pass membrane protein {ECO:0000269PubMed:9878250}.

Disease Associations

Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]: An autosomal recessive frequent inborn disorder of sterol metabolism with characteristic congenital malformations and mental retardation. Children with SLOS have elevated serum 7- dehydrocholesterol (7-DHC) levels and low serum cholesterol levels. SLOS occurs in relatively high frequency: approximately 1 in 20,000 to 30,000 births in populations of northern and central European background. Historically, a clinical distinction often was made between classic ('type I') SLOS and the more severely affected ('type II') patients. There is, in reality, a clinical and biochemical continuum from mild to severe SLOS. {ECO:0000269PubMed:10677299, ECO:0000269PubMed:10995508, ECO:0000269PubMed:11175299, ECO:0000269PubMed:11427181, ECO:0000269PubMed:12949967, ECO:0000269PubMed:15954111, ECO:0000269PubMed:9653161, ECO:0000269PubMed:9683613}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Most abundant in adrenal gland, liver, testis, and brain. {ECO:0000269PubMed:9878250}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.

Experimentally validated
Total	13 [view]
Protein-Protein	13 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0047598	7-dehydrocholesterol reductase activity

Biological Process

GO:0006695	cholesterol biosynthetic process
GO:0044281	small molecule metabolic process
GO:0055114	oxidation-reduction process

Cellular Component

GO:0005640	nuclear outer membrane
GO:0005783	endoplasmic reticulum
GO:0005789	endoplasmic reticulum membrane
GO:0016020	membrane
GO:0016021	integral component of membrane