Sterol-C5-desaturase-like

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Sterol-C5-desaturase
Identifiers
Symbols SC5D ; ERG3; S5DES; SC5DL
External IDs OMIM602286 MGI1353611 HomoloGene5044 GeneCards: SC5D Gene
EC number 1.14.21.6
RNA expression pattern
PBB GE SC5DL 211423 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 6309 235293
Ensembl ENSG00000109929 ENSMUSG00000032018
UniProt O75845 O88822
RefSeq (mRNA) NM_001024956 NM_172769
RefSeq (protein) NP_001020127 NP_766357
Location (UCSC) Chr 11:
121.16 – 121.18 Mb
Chr 9:
42.25 – 42.26 Mb
PubMed search [1] [2]

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]