NMRK2
Description
The NMRK2 (nicotinamide riboside kinase 2) is a protein-coding gene located on chromosome 19.
NMRK2 catalyzes the phosphorylation of nicotinamide riboside (NR) and nicotinic acid riboside (NaR) to produce nicotinamide mononucleotide (NMN) and nicotinic acid mononucleotide (NaMN). It inhibits laminin matrix deposition and cell adhesion to laminin, but not to fibronectin. Additionally, NMRK2 regulates the protein levels and tyrosine phosphorylation of PXN, potentially playing a role in the regulation of terminal myogenesis.
NMRK2 is also known as ITGB1BP3, MIBP, NRK2.
Associated Diseases
- pseudohypoparathyroidism type 2
- hypoparathyroidism, familial isolated, 2
- isolated hyperchlorhidrosis
- hearing loss-familial salivary gland insensitivity to aldosterone syndrome
- familial isolated hypoparathyroidism due to agenesis of parathyroid gland
- autosomal recessive hypophosphatemic rickets
- familial hyperaldosteronism type II
- breast cancer
- cancer
- Angel-shaped phalango-epiphyseal dysplasia
