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MGP002752

Record overview

MGPD IDMGP002752
Gene ID6309
SpeciesHomo sapiens (Human)
Gene Namesterol-C5-desaturase
Gene Symbol SC5D
SynonymsERG3; S5DES; SC5DL;
Alternate nameslathosterol oxidase; 3beta-hydroxysteroid-delta5-desaturase; C-5 sterol desaturase; delta(7)-sterol 5-desaturase; fungal ERG3, delta-5-desaturase-like; lathosterol 5-desaturase; lathosterol dehydrogenase; sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like;
Chromosome11
Map Location11q23.3
EC Number1.14.21.6
SummaryThis 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. [provided by RefSeq, Jul 2008]
OrthologsView orthologs and multiple alignments for SC5D

Proteins

lathosterol oxidase
Refseq ID:NP_008849
Protein GI:68160941
UniProt ID:O75845
mRNA ID:NM_006918
Length:299
RefSeq Status:
MDLVLRVADYYFFTPYVYPATWPEDDIFRQAISLLIVTNVGAYILYFFCATLSYYFVFDHALMKHPQFLKNQVRREIKFTVQALPWISILTVALFLLEIR
GYSKLHDDLGEFPYGLFELVVSIISFLFFTDMFIYWIHRGLHHRLVYKRLHKPHHIWKIPTPFASHAFHPIDGFLQSLPYHIYPFIFPLHKVVYLSLYIL
VNIWTISIHDGDFRVPQILQPFINGSAHHTDHHMFFDYNYGQYFTLWDRIGGSFKNPSSFEGKGPLSYVKEMTEGKRSSHSGNGCKNEKLFNGEFTKTE
 
lathosterol oxidase
Refseq ID:NP_001020127
Protein GI:68160945
UniProt ID:O75845
mRNA ID:NM_001024956
Length:299
RefSeq Status:
Protein sequence is identical to GI:68160941 (mRNA isoform)
 
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