Sterol-C5-desaturase-like

Lathosterol oxidase is a Δ7-sterol 5(6)-desaturase enzyme that in humans is encoded by the SC5D gene.^[5][6]

SC5D
Identifiers
Aliases	SC5D, ERG3, S5DES, SC5DL, Sterol-C5-desaturase-like, sterol-C5-desaturase
External IDs	OMIM: 602286; MGI: 1353611; HomoloGene: 5044; GeneCards: SC5D; OMA:SC5D - orthologs
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11q23.3-q24.1 Start 121,292,681 bp[1] End 121,313,410 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9|9 A5.1 Start 42,162,891 bp[2] End 42,175,552 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in pons right lobe of liver corpus epididymis seminal vesicula jejunal mucosa islet of Langerhans superior vestibular nucleus vulva ganglionic eminence retinal pigment epithelium Top expressed in left lobe of liver seminal vesicula jejunum epithelium of stomach anterior horn of spinal cord white adipose tissue calvaria esophagus subcutaneous adipose tissue ileum More reference expression data BioGPS More reference expression data
Gene ontology Molecular function iron ion binding oxidoreductase activity delta7-sterol 5(6)-desaturase activity C-5 sterol desaturase activity Cellular component integral component of membrane endoplasmic reticulum membrane intracellular membrane-bounded organelle endoplasmic reticulum membrane Biological process steroid metabolic process sterol biosynthetic process cholesterol biosynthetic process via desmosterol lipid metabolism steroid biosynthetic process cholesterol biosynthetic process via lathosterol lipid biosynthetic process regulation of cholesterol biosynthetic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6309 235293 Ensembl ENSG00000109929 ENSMUSG00000032018 UniProt O75845 O88822 RefSeq (mRNA) NM_006918 NM_001024956 NM_172769 RefSeq (protein) NP_001020127 NP_008849 NP_766357 Location (UCSC) Chr 11: 121.29 – 121.31 Mb Chr 9: 42.16 – 42.18 Mb PubMed search [3] [4]
Wikidata
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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.^[6]