Disease-gene associations mined from literature

Literature associating ENPP6 and hereditary sensory and autonomic neuropathy type 1A

ENPP6 [ENSP00000296741]

Ectonucleotide pyrophosphatase/phosphodiesterase family member 6; Choline-specific glycerophosphodiester phosphodiesterase. The preferred substrate may be lysosphingomyelin (By similarity). Hydrolyzes lysophosphatidylcholine (LPC) to form monoacylglycerol and phosphorylcholine but not lysophosphatidic acid, showing it has a lysophospholipase C activity. Has a preference for LPC with short (12:0 and 14:0) or polyunsaturated (18:2 and 20:4) fatty acids. Also hydrolyzes glycerophosphorylcholine and sphingosylphosphorylcholine efficiently. Hydrolyzes the classical substrate for phospholipase C, p-nitrophenyl phosphorylcholine in vitro, while it does not hydrolyze the classical nucleotide phosphodiesterase substrate, p-nitrophenyl thymidine 5'- monophosphate. Does not hydrolyze diacyl phospholipids such as phosphatidylethanolamine, phosphatidylinositol, phosphatidylserine, phosphatidylglycerol and phosphatidic acid.

Synonyms:  ENPP6,  ENPP6p,  hENPP6,  D6R9P1,  Q6UWR7 ...

Linkouts:  STRING  Pharos  UniProt