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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
Related
lathosterol (5-alpha-cholest-7-en-3-beta-ol)
lathosterolosis
General
oxidoreductase
phosphoprotein
transmembrane 4 protein
Properties
SIZE: MW = 35 kD
entity length = 299 aa
COMPARTMENT: endoplasmic reticulum
MOTIF: cytoplasmic domain {1-31}
transmembrane domain {32-52}
exoplasmic loop {53-78}
transmembrane domain {79-99}
cytoplasmic loop {100-116}
transmembrane domain {117-136}
exoplasmic loop {137-185}
MOTIF: histidine-rich region {138-143}
MOTIF: histidine residue (SEVERAL)
histidine-rich region {151-155}
MOTIF: histidine residue (SEVERAL)
transmembrane domain {186-206}
cytoplasmic domain {207-299}
MOTIF: histidine-rich region {228-233}
MOTIF: histidine residue (SEVERAL)
Ser phosphorylation site {S253}
Database Correlations
OMIM correlations
MORBIDMAP 602286
UniProt O75845
Pfam PF04116
Entrez Gene 6309
Kegg hsa:6309
ENZYME 1.14.21.6
References
UniProt :accession O75845