DHCR7

This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by cognitive disability, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Aug 2009]

Description

7-dehydrocholesterol reductase

Tissue specificity

Tissue enhanced (liver)

Subcell location

Endoplasmic reticulum

Predicted location

Membrane

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

11 (71428193 - 71452868)

Ensembl ID

ENSG00000172893  (ver. 103.38)

Orthologs

Mouse Dhcr7: ENSMUSG00000058454

UniProt

Q9UBM7

neXtProt

NX_Q9UBM7

Human splice variants
Mouse splice variants

Protein structure