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 |