| GENE NAME | PNPLA6 |
| CHROMOSOME | 19 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000032444 |
| UNIPROT ACCESSION NUMBER | Q8IY17 |
| GO MOLECULAR FUNCTION | ['lysophospholipase activity', 'phosphatidyl phospholipase B activity'] |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | hsa00564; R-HSA-1430728; R-HSA-1483255; R-HSA-1483257; R-HSA-556833; R-HSA-6814848 |
| 9 combinations linked to PNPLA6 | OLI814; OLI1417; OLI1390; OLI1413; OLI1323; OLI1400; OLI1411; OLI1421; OLI848 |
| 8 variants linked to PNPLA6 | PNPLA6:c.851_859delCTGCCCGGGinsACCGTGT, p.Ser284TyrfsTer56; PNPLA6:c.1244G>A, p.Arg415Gln; PNPLA6:c.2467G>A, p.Ala823Thr; PNPLA6:c.1123G>C, p.Ala375Pro; PNPLA6:c.1198G>A, p.Asp400Asn; PNPLA6:c.1484C>T, p.Pro495Leu; PNPLA6:c.4108G>A, p.Gly1370Ser; PNPLA6:c.2389G>A, p.Val797Met |
| 4 diseases linked to PNPLA6 | Hypogonadotropic hypogonadism with absent puberty phenotype; Hypogonadotropic hypogonadism with partial puberty phenotype; Kallmann syndrome; Normosmic congenital hypogonadotropic hypogonadism |