Klotho (biology)

KL
Identifiers
Aliases	KL, entrez:9365, klotho, HFTC3, KLA
External IDs	OMIM: 604824 MGI: 1101771 HomoloGene: 68415 GeneCards: KL
Gene location (Human)
Chr.	Chromosome 13 (human)
End	33,066,143 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	150,917,282 bp
RNA expression pattern
	Top expressed in
	kidney tubule; ; renal medulla; ; glomerulus; ; metanephric glomerulus; ; kidney; ; corpus epididymis; ; placenta; ; Region I of hippocampus proper; ; retinal pigment epithelium; ; islet of Langerhans;
	Top expressed in
	kidney; ; proximal tubule; ; hippocampus proper; ; submandibular gland; ; islet of Langerhans; ; superior frontal gyrus; ; cerebellar cortex; ; trachea; ; pituitary gland; ; pineal gland;
	More reference expression data
	n/a
Gene ontology
Molecular function	hydrolase activity, hydrolyzing O-glycosyl compounds; hormone activity; beta-glucuronidase activity; signal transducer activity; hydrolase activity, acting on glycosyl bonds; vitamin D binding; fibroblast growth factor binding; beta-glucosidase activity; hydrolase activity; phosphatidylinositol-4,5-bisphosphate 3-kinase activity; fibroblast growth factor receptor binding; 1-phosphatidylinositol-3-kinase activity;
Cellular component	integral component of membrane; membrane; plasma membrane; integral component of plasma membrane; extracellular region; apical plasma membrane; extracellular exosome; intracellular anatomical structure; extracellular space;
Biological process	calcium ion homeostasis; positive regulation of bone mineralization; human ageing; MAPK cascade; positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway; energy reserve metabolic process; metabolism; glycosyl compound metabolic process; phosphatidylinositol phosphate biosynthetic process; insulin receptor signaling pathway; fibroblast growth factor receptor signaling pathway; phosphatidylinositol-3-phosphate biosynthetic process; carbohydrate metabolic process; regulation of signaling receptor activity; positive regulation of protein kinase B signaling; regulation of molecular function;
	Sources:Amigo / QuickGO
Orthologs
	9365
	16591
	ENSG00000133116
	ENSMUSG00000058488
	Q9UEF7
	O35082
	NM_004795; NM_153683
	NM_013823
	NP_004786
	NP_038851
	Wikidata
View/Edit Human	View/Edit Mouse

Klotho is an enzyme that in humans is encoded by the KL gene. The three subfamilies of klotho are α-klotho, β-klotho, and γ-klotho. α-klotho activates FGF23, and β-klotho activates FGF19 and FGF21. When the subfamily is not specified, the word "klotho" typically refers to the α-klotho subfamily, because α-klotho was discovered before the other members.

α-klotho is highly expressed in the brain, liver and kidney. β-klotho is predominantly expressed in the liver. γ-klotho is expressed in the skin.

Klotho can exist in a membrane-bound form or a (hormonal) soluble, circulating form. Proteases can convert the membrane-bound form into the circulating form.

The KL gene encodes a type-I single-pass transmembrane protein that is related to β-glucuronidases. Reduced production of this protein has been observed in patients with chronic kidney failure (CKF), and this may be one of the factors underlying degenerative processes (e.g., arteriosclerosis, osteoporosis, and skin atrophy) seen in CKF. Mutations within the family have been associated with ageing, bone loss and alcohol consumption. Transgenic mice that overexpress Klotho live longer than wild-type mice.

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