Basic Information

Symbol
SC5D
RNA class
mRNA
Alias
Sterol-C5-Desaturase Lathosterol Oxidase SC5DL Sterol-C5-Desaturase (ERG3 Delta-5-Desaturase Homolog, S. Cerevisiae)-Like Delta(7)-Sterol C5(6)-Desaturase Delta(7)-Sterol 5(6)-Desaturase Delta(7)-Sterol 5-Desaturase Lathosterol 5-Desaturase C-5 Sterol Desaturase Sterol-C5-Desaturase (ERG3 Delta-5-Desaturase Homolog, Fungal)-Like Sterol-C5-Desaturase (Fungal ERG3, Delta-5-Desaturase)-Like 3beta-Hydroxysteroid-Delta5-Desaturase Fungal ERG3, Delta-5-Desaturase-Like Lathosterol Dehydrogenase EC 1.14.19.20 S5DES ERG3
Location (GRCh38)
11:121292681-121313410
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Other applications
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_006918.5
Sequence length
6854.0 nt
GC content
0.3690

Transcripts

ID Sequence Length GC content
NM_001024956.3 NCBI
UACACCUGAGCGGGCUGGGCCGGGGGGCGAUGGAAUAAAAGAAGAUGGA… 7035 nt 0.3758
NM_006918.5 NCBI
AGUUUGCAGAGCAGUGGCGUGCGGAGCGGCGGCGGACCACCUCCAGGGG… 6854 nt 0.3690
Summary

This gene encodes an enzyme of cholesterol biosynthesis. The encoded protein catalyzes the conversion of lathosterol into 7-dehydrocholesterol. Mutations in this gene have been associated with lathosterolosis. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]

Forensic Context

A study in mice demonstrated that the SC5D gene, involved in cholesterol biosynthesis, was significantly up-regulated by alcohol in a model of alcoholic liver disease, and this up-regulation was inhibited by treatment with Gentiana dahurica Fisch ethanol extract [Cao et al. DOI:10.1016/J.Jep.2020.113422].