Details for Gene KLB

GENE NAME KLB
CHROMOSOME 4
ENSEMBL ID None
ENTREZ ID ENSG00000134962
UNIPROT ACCESSION NUMBER Q86Z14
GO MOLECULAR FUNCTION ['fibroblast growth factor receptor binding', 'hydrolase activity, hydrolyzing O-glycosyl compounds', 'protein binding', 'fibroblast growth factor binding']
ESSENTIAL IN MOUSE Non-essential
PATHWAYS hsa04714; R-HSA-109704; R-HSA-112399; R-HSA-1257604; R-HSA-1307965; R-HSA-162582; R-HSA-1643685; R-HSA-190236; R-HSA-190322; R-HSA-199418; R-HSA-2219528; R-HSA-2219530; R-HSA-2404192; R-HSA-2428924; R-HSA-2428928; R-HSA-5654228; R-HSA-5654712; R-HSA-5654716; R-HSA-5654719; R-HSA-5654720; R-HSA-5654733; R-HSA-5654743; R-HSA-5663202; R-HSA-5673001; R-HSA-5683057; R-HSA-5684996; R-HSA-6811558; R-HSA-74751; R-HSA-74752; R-HSA-9006925; R-HSA-9006934
4 combinations linked to KLB OLI1419; OLI1388; OLI1418; OLI1386
4 variants linked to KLB KLB:c.926G>A, p.Arg309Gln; KLB:c.3032T>C, p.Leu1011Pro; KLB:c.2959G>A, p.Val987Ile; KLB:c.820A>G, p.Ile274Val
2 diseases linked to KLB Hypogonadotropic hypogonadism with absent puberty phenotype; Hypogonadotropic hypogonadism with partial puberty phenotype
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