TM7SF2
Description
The TM7SF2 (transmembrane 7 superfamily member 2) is a protein-coding gene located on chromosome 11.
Delta(14)-sterol reductase is an enzyme that in humans is encoded by the TM7SF2 gene.
TM7SF2 (Delta-14-SR) catalyzes the reduction of the C14-unsaturated bond of lanosterol, a crucial step in the cholesterol biosynthesis pathway.
TM7SF2 is also known as ANG1, C14SR, DHCR14A, NET47.
Associated Diseases
- linear and whorled nevoid hypermelanosis
- 22q11.2 deletion syndrome
- neutropenia, severe congenital, 1, autosomal dominant
- eosinophil peroxidase deficiency
- papilloma
- skin papilloma
- cancer
- pseudoxanthoma elasticum (inherited or acquired)
- type 2 diabetes mellitus
- ichthyosis
