NPL
Description
The NPL (N-acetylneuraminate pyruvate lyase) is a protein-coding gene located on chromosome 1.
NPL, or N-acetylneuraminate lyase, is a human gene that encodes for an enzyme crucial for the breakdown of sialic acid. This gene has multiple other meanings related to sports and computing, but here we focus on its biological function. The enzyme produced by the NPL gene plays a vital role in the degradation of Neu5Gc, a sugar humans consume through their diet but cannot produce. This degradation prevents the accumulation of Neu5Gc, which could lead to inflammation.
NPL catalyzes the breakdown of N-acetylneuraminic acid (sialic acid) into pyruvate and N-acetylmannosamine, preventing sialic acids from being re-used by the cell. This process is essential for the degradation of N-glycolylneuraminic acid (Neu5Gc), which humans cannot produce but consume through food. NPL's role in Neu5Gc degradation is crucial because this sugar can accumulate and potentially cause inflammation.
NPL is also known as C112, C1orf13, NAL, NPL1.
Associated Diseases
- hypertriglyceridemia 2
- cholesterol-ester transfer protein deficiency
- autosomal dominant mitochondrial myopathy with exercise intolerance
- myofibrillar myopathy 3
- carnitine palmitoyl transferase II deficiency, myopathic form
- thyroid hormone metabolism, abnormal, 2
- GNE myopathy
- combined oxidative phosphorylation deficiency 49
- sitosterolemia
- glycogen storage disease IXd
- homozygous familial hypercholesterolemia
- autosomal recessive limb-girdle muscular dystrophy type 2L
- facioscapulohumeral muscular dystrophy 4, digenic
- autosomal dominant distal myopathy
- myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis
- autosomal recessive limb-girdle muscular dystrophy type 2H
- polyglucosan body myopathy type 2
