Details for Gene PNPLA7

GENE NAME PNPLA7
CHROMOSOME 9
ENSEMBL ID ENSG00000130653
ENTREZ ID 375775
UNIPROT ACCESSION NUMBER Q6ZV29
GO MOLECULAR FUNCTION lysophospholipase activity; hydrolase activity; phosphatidyl phospholipase B activity
ESSENTIAL IN MOUSE None
PATHWAYS R-HSA-1483257; hsa00564; R-HSA-1483255; R-HSA-556833; R-HSA-6814848; R-HSA-1430728
1 combination linked to PNPLA7 OLI556
1 variant linked to PNPLA7 PNPLA7:c.3608T>C, p.Ile1203Thr
1 disease linked to PNPLA7 Normosmic congenital hypogonadotropic hypogonadism

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