HINT2
Description
The HINT2 (histidine triad nucleotide binding protein 2) is a protein-coding gene located on chromosome 9.
HINT2 is a mitochondrial protein encoded by the HINT2 gene on chromosome 9. It belongs to the histidine triad nucleotide-binding (Hint) protein family and contains a conserved histidine and HIT sequence motif. HINT2 forms a 17-kDa homodimer and has a 61% sequence homology to HINT1 and 28% sequence homology to HINT3. It acts as an AMP-lysine hydrolase and phosphoamidase and may contribute to tumor suppression. HINT2 is expressed in the liver, adrenal cortex, and pancreas. As a member of the Hint subfamily, it functions as a nucleotide hydrolase and transferase that acts on the alpha-phosphate of ribonucleotides.
HINT2 exhibits adenosine 5'-monophosphoramidase activity, hydrolyzing purine nucleotide phosphoramidates with a single phosphate group, such as adenosine 5'monophosphoramidate (AMP-NH2), to yield AMP and NH2. It also hydrolyzes adenosine 5'-O-p-nitrophenylphosphoramidate (AMP-pNA) and fluorogenic purine nucleoside tryptamine phosphoramidates in vitro. HINT2 may be involved in steroid biosynthesis and play a role in apoptosis.
HINT2 is also known as HIT-17.
Associated Diseases
- CIDEC-related familial partial lipodystrophy
- LIPE-related familial partial lipodystrophy
- glycogen storage disease VI
- PLIN1-related familial partial lipodystrophy
- neonatal intrahepatic cholestasis due to citrin deficiency
- obesity due to melanocortin 4 receptor deficiency
- MPI-congenital disorder of glycosylation
- glycogen storage disease due to liver phosphorylase kinase deficiency
- neutral lipid storage myopathy
- AKT2-related familial partial lipodystrophy
- familial partial lipodystrophy, Dunnigan type
- autosomal recessive hyperinsulinism due to Kir6.2 deficiency
- low phospholipid associated cholelithiasis
- PPARG-related familial partial lipodystrophy
- hypoinsulinemic hypoglycemia and body hemihypertrophy
- galactokinase deficiency
