7-Dehydrocholesterol Reductase (DHCR7)

DHCR-7; SLOS; D7SR; Smith-Lemli-Opitz Syndrome; Putative sterol reductase SR-2; Sterol Delta(7)-reductase

SPN	U575
HGNC	2860
MGI	1298378
PubMed	12914579
RGD	621769
UniProt	Q9UBM7
Wiki	DHCR7

7-dehydrocholesterol reductasean 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 mental retardation, 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.

Reference

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"Mutations in the human sterol delta 7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome."
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"Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS)."
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