NP_001020127.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
35,301 Da
NCBI Official Full Name
lathosterol oxidase
NCBI Official Synonym Full Names
sterol-C5-desaturase
NCBI Protein Information
lathosterol oxidase
UniProt Protein Name
Lathosterol oxidase
UniProt Synonym Protein Names
C-5 sterol desaturase; Delta(7)-sterol 5-desaturase; Delta(7)-sterol C5(6)-desaturase; Lathosterol 5-desaturase; Sterol-C5-desaturase
UniProt Synonym Gene Names
UniProt Entry Name
SC5D_HUMAN
NCBI Summary for LO
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. [provided by RefSeq, Jul 2008]
UniProt Comments for LO
SC5DL: Catalyzes a dehydrogenation to introduce C5-6 double bond into lathosterol. Defects in SC5DL are the cause of lathosterolosis (LATHST). This autosomal recessive disorder is characterized by a complex phenotype, including multiple congenital anomalies, mental retardation, and liver disease. Belongs to the sterol desaturase family.
Protein type: Membrane protein, integral; Membrane protein, multi-pass; Lipid Metabolism - steroid biosynthesis; EC 1.14.21.6; Oxidoreductase
Chromosomal Location of Human Ortholog: 11q23.3
Cellular Component: endoplasmic reticulum membrane; integral to membrane
Molecular Function: C-5 sterol desaturase activity; iron ion binding
Biological Process: cholesterol biosynthetic process; cholesterol biosynthetic process via desmosterol; cholesterol biosynthetic process via lathosterol; fatty acid biosynthetic process; lipid metabolic process
Disease: Lathosterolosis
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Products associated with LO elisa kit
Pathways associated with LO elisa kit
Diseases associated with LO elisa kit
Organs/Tissues associated with LO elisa kit
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