TM7SF2

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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