C200779Level 5
DHCR7 wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human DHCR7 wild-type allele is located in the vicinity of 11q13.4 and is approximately 25 kb in length. This allele, which encodes 7-dehydrocholesterol reductase protein, plays a role in cholesterol biosynthesis. Mutation of the gene is associated with Smith-Lemli-Opitz syndrome.
**Synonyms:** - 7-Dehydrocholesterol Reductase wt Allele - D7SR - Delta-7-Dehydrocholesterol Reductase Gene - Putative Sterol Reductase SR-2 Gene - SLOS - Smith-Lemli-Opitz Syndrome Gene - Sterol Delta-7-Reductase Gene
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