Protein Family Models

The EXPERA (EXPanded EBP superfamily) domain is conserved among the following protein families: TM6SF1 (Transmembrane 6 Superfamily Member 1), TM6SF2 (Transmembrane 6 Superfamily Member 2), MAC30 (Meningioma-associated protein 30 also known as TMEM97, or Transmembrane protein 97), and EBP (Emopamil binding protein). EBP is an enzyme with a D8, D7 sterol isomerase activity that catalyzes the transposition of a double bond from C8=C9 to C7=C8 in the sterol B-ring. Mutations of EBP are known to cause the genetic disorder of X-linked dominant chondrodysplasia punctata (CDPX2). This syndrome of humans is lethal in most males, and affected females display asymmetric hyperkeratotic skin and skeletal abnormalities [1]. [1]. 25566323. TM6SF2 and MAC30, new enzyme homologs in sterol metabolism and. common metabolic disease.. Sanchez-Pulido L, Ponting CP;. Front Genet. 2014;5:439. (from Pfam)

Date:

2024-08-14

EXPERA (EXPanded EBP superfamily) domain-containing protein such as Homo sapiens 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase and emopamil-binding protein (EBP)-like may be involved in sterol metabolism or the regulation of cholesterol homeostasis; GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase catalyzes the addition of the 4th and 5th mannose residues to the dolichol-linked oligosaccharide chain, and is involved in the last steps of the synthesis of Man5GlcNAc(2)-PP-dolichol core oligosaccharide on the cytoplasmic face of the endoplasmic reticulum

Date:

2017-03-02

EXPERA (EXPanded EBP superfamily) domain-containing protein such as Homo sapiens 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase and emopamil-binding protein (EBP)-like may be involved in sterol metabolism or the regulation of cholesterol homeostasis

Date:

2024-07-16