GENE NAME | KL |
CHROMOSOME | 13 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000133116 |
UNIPROT ACCESSION NUMBER | Q9UEF7 |
GO MOLECULAR FUNCTION | ['beta-glucuronidase activity', 'fibroblast growth factor binding', 'hormone activity', 'beta-glucosidase activity', 'fibroblast growth factor receptor binding', 'vitamin D binding'] |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | hsa00040; hsa00053; hsa01100; hsa04211; hsa04928; hsa04961 |
3 combinations linked to KL | OLI1402; OLI813; OLI1383 |
3 variants linked to KL | KL:c.860G>A, p.Arg287His; KL:c.560C>T, p.Pro187Leu; KL:c.499C>T, p.Arg167Cys |
3 diseases linked to KL | Hypogonadotropic hypogonadism with absent puberty phenotype; Hypogonadotropic hypogonadism with Fertile Eunuch phenotype; Kallmann syndrome |