SC5D

SC5D (eng. Sterol-C5-desaturase) je enzim Δ7-sterol 5(6)-desaturaze kodiran istoimenim SC5D genom, koji se kod ljudi nalazi na kratkom kraku 11. hromozoma. Dužina polipeptidnog lanca proteina je 299 aminokiselina, a molekulska masa−35.301..

SC5D
Identifikatori
Alijasi	SC5D
Spoljašnji ID	OMIM: 602286 MGI: 1353611 HomoloGene: 5044 GeneCards: SC5D
Genska lokacija (miš) Hr. Chromosome 9 (mouse) Band 9|9 A5.1 Start 42,162,891 bp Kraj 42,175,552 bp
Obrazac RNK izražavanja More reference expression data
Genska ontologija Molecular function • везивање јона гвожђа • oxidoreductase activity • delta7-sterol 5(6)-desaturase activity • C-5 sterol desaturase activity Cellular component • саставни део мембране • ендоплазматични ретикулум • мембрана • intracellular membrane-bounded organelle • endoplasmic reticulum membrane Biological process • steroid metabolic process • sterol biosynthetic process • cholesterol biosynthetic process via desmosterol • липидни метаболизам • steroid biosynthetic process • cholesterol biosynthetic process via lathosterol • липогенеза • regulation of cholesterol biosynthetic process Sources:Amigo / QuickGO
Ortolozi
Vrste	Čovek	Miš
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)	n/a	Chr 9: 42.16 – 42.18 Mb
PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Ovaj gen kodira enzim biosinteze holesterola. Proteini koje kodira ovaj gen katalizuju konverziju latosterola u 7-Dehidroholesterol. Mutacije u ovom genu su povezane sa latosterolozom. Opisane su alternativno splajsovane varijante transkripta koje kodiraju isti protein.

Dopunska literatura

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• Leonard AE, Kelder B, Bobik EG, et al. (2000). „cDNA cloning and characterization of human Delta5-desaturase involved in the biosynthesis of arachidonic acid.”. Biochem. J. 347 Pt 3 (3): 719—24. PMC 1221008 . PMID 10769175. doi:10.1042/0264-6021:3470719. 
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• Brunetti-Pierri N, Corso G, Rossi M, et al. (2002). „Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase.”. Am. J. Hum. Genet. 71 (4): 952—8. PMC 378549 . PMID 12189593. doi:10.1086/342668. 
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). „Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.”. Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899—903. Bibcode:2002PNAS...9916899M. PMC 139241 . PMID 12477932. doi:10.1073/pnas.242603899 . 
• Krakowiak PA, Wassif CA, Kratz L, et al. (2004). „Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency.”. Hum. Mol. Genet. 12 (13): 1631—41. PMID 12812989. doi:10.1093/hmg/ddg172 . 
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). „Complete sequencing and characterization of 21,243 full-length human cDNAs.”. Nat. Genet. 36 (1): 40—5. PMID 14702039. doi:10.1038/ng1285 . 
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). „The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”. Genome Res. 14 (10B): 2121—7. PMC 528928 . PMID 15489334. doi:10.1101/gr.2596504.