lathosterol oxidase; C-5 sterol desaturase; delta(7)-sterol 5-desaturase; lathosterol 5-desaturase; sterol-C5-desaturase (SC5D, SC5DL)

Function

• catalyzes dehydrogenation of lathosterol to introduce C5-6 double bond

5-alpha-cholest-7-en-3-beta-ol + NADPH + O2
             <-->
cholesta-5,7-dien-3-beta-ol + NADP+ + 2 H2O

Cofactor: iron

Structure

• the histidine box domains may contain active site &/or metal ion binding site

Compartment

endoplasmic reticulum membrane

Pathology

• defects in SC5DL are the cause of lathosterolosis

More general terms

• transmembrane 4 protein
• oxidoreductase
• phosphoprotein

Additional terms

• lathosterol (5-alpha-cholest-7-en-3-beta-ol)
• lathosterolosis

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=6309
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:6309
• OMIM: https://mirror.omim.org/entry/602286
• OMIM: https://mirror.omim.org/entry/607330
• UniProt: http://www.uniprot.org/uniprot/O75845.html