Details for Gene KL

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; OLI1383; OLI813
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

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