PEX11A

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Description

The PEX11A (peroxisomal biogenesis factor 11 alpha) is a protein-coding gene located on chromosome 15.

Peroxisomal membrane protein 11A is a protein that in humans is encoded by the PEX11A gene.

PEX11A may play a role in peroxisome proliferation and division. It may also mediate the binding of coatomer proteins to the peroxisomal membrane. Additionally, it promotes membrane protrusion and elongation on the peroxisomal surface.

PEX11A is also known as PEX11-ALPHA, PEX11alpha, PMP28, hsPEX11p.

Associated Diseases

• glycogen storage disease VI
• transient infantile hypertriglyceridemia and hepatosteatosis
• neonatal intrahepatic cholestasis due to citrin deficiency
• proteasome-associated autoinflammatory syndrome 5
• hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• citrullinemia type II
• low phospholipid associated cholelithiasis
• familial apolipoprotein C-II deficiency
• obesity due to melanocortin 4 receptor deficiency
• familial chylomicronemia syndrome
• abdominal obesity-metabolic syndrome 4
• coronary artery disease, autosomal dominant 2
• TMEM199-CDG