Sterol-C5-desaturase-like

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SC5D
Identifiers
Aliases SC5D, ERG3, S5DES, SC5DL, Sterol-C5-desaturase-like, sterol-C5-desaturase
External IDs MGI: 1353611 HomoloGene: 5044 GeneCards: 6309
RNA expression pattern
PBB GE SC5DL 211423 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_006918
NM_001024956

NM_172769

RefSeq (protein)

NP_001020127.1
NP_008849.2

NP_766357.1

Location (UCSC) Chr 11: 121.29 – 121.31 Mb Chr 9: 42.25 – 42.26 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Lathosterol oxidase is an enzyme that in humans is encoded by the SC5DL gene.[1][2]

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.[2]

References[edit]

  1. ^ Matsushima M, Inazawa J, Takahashi E, Suzumori K, Nakamura Y (Jan 1997). "Molecular cloning and mapping of a human cDNA (SC5DL) encoding a protein homologous to fungal sterol-C5-desaturase". Cytogenet Cell Genet 74 (4): 252–4. doi:10.1159/000134427. PMID 8976377. 
  2. ^ a b "Entrez Gene: SC5DL sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like". 

Further reading[edit]