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: SC5D
Gene location (Human)
Chromosome 11 (human)
Chr. Chromosome 11 (human)[1]
Chromosome 11 (human)
Genomic location for SC5D
Genomic location for SC5D
Band No data available Start 121,292,453 bp[1]
End 121,308,694 bp[1]
RNA expression pattern
PBB GE SC5DL 211423 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
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 11: 42.25 – 42.26 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Lathosterol oxidase is an enzyme that in humans is encoded by the SC5DL gene.[5][6]

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]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000109929 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000032018 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ 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. PMID 8976377. doi:10.1159/000134427. 
  6. ^ a b "Entrez Gene: SC5DL sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like". 

Further reading[edit]