Details for Gene ENPP1

GENE NAME ENPP1
CHROMOSOME 6
ENSEMBL ID None
ENTREZ ID ENSG00000197594
UNIPROT ACCESSION NUMBER None
GO MOLECULAR FUNCTION ['zinc ion binding', 'cyclic-GMP-AMP hydrolase activity', 'exonuclease activity', 'nucleotide diphosphatase activity', 'scavenger receptor activity', 'nucleic acid binding', 'calcium ion binding', 'ATP binding', 'NADH pyrophosphatase activity', 'phosphodiesterase I activity', 'dTTP diphosphatase activity', 'protein binding', "3'-phosphoadenosine 5'-phosphosulfate binding", 'protein homodimerization activity', 'insulin receptor binding', 'polysaccharide binding', 'nucleoside-triphosphate diphosphatase activity']
ESSENTIAL IN MOUSE Non-essential
PATHWAYS hsa00230; hsa00240; hsa00500; hsa00740; hsa00760; hsa00770; hsa01100; R-HSA-1430728; R-HSA-196843; R-HSA-196849; R-HSA-196854; R-HSA-199220
1 combination linked to ENPP1 OLI1248
1 variant linked to ENPP1 ENPP1:c.971G>A, p.Gly324Glu
1 disease linked to ENPP1 Epidermolysis bullosa simplex

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