Sterol-C5-desaturase-like

SC5D
Identifiers
Aliases	SC5D, ERG3, S5DES, SC5DL, Sterol-C5-desaturase-like, sterol-C5-desaturase
External IDs	OMIM: 602286 MGI: 1353611 HomoloGene: 5044 GeneCards: SC5D
Gene location (Human)
Chr.	Chromosome 11 (human)
End	121,313,410 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	42,175,552 bp
RNA expression pattern
	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
	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
	6309
	235293
	ENSG00000109929
	ENSMUSG00000032018
	O75845
	O88822
	NM_006918; NM_001024956
	NM_172769
	NP_001020127; NP_008849
	NP_766357
	Wikidata
View/Edit Human	View/Edit Mouse

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

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.

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