SC5D gene

sterol-C5-desaturase

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Catalyzes a dehydrogenation to introduce C5-6 double bond into lathosterol.

From NCBI Gene:

  • Lathosterolosis

From UniProt:

Lathosterolosis (LATHST): Autosomal recessive disorder characterized by a complex phenotype, including multiple congenital anomalies, mental retardation, and liver disease. [MIM:607330]

Cytogenetic Location: 11q23.3, which is the long (q) arm of chromosome 11 at position 23.3

Molecular Location: base pairs 121,292,679 to 121,313,410 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11q23.3, which is the long (q) arm of chromosome 11 at position 23.3
  • ERG3
  • S5DES
  • SC5DL