klotho

Summary
Gene Symbol
  • KL
Aliases
  • KLA
  • alpha-klotho
Organism
Homo sapiens (human)
External Links
NCBI Gene
9365
HGNC
6344
KEGG Gene ID
hsa:9365
PubChem
9365
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Cell membrane
  • Disease variant
  • Glycoprotein
  • Glycosidase
  • Hormone
  • Reference proteome
  • Repeat
  • Secreted
  • Signal
  • Transmembrane helix
  • Vitamin D
Proteins
Displaying 1 entry
UniProt Protein Name
Q9UEF7
Gene Ontology (GO)
GO Hierarchy
KEGG BRITE Database
Orthology
K14756
Name
klotho [EC:3.2.1.31]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 345 in total
DO ID Disease Name Source
DOID:0014667 disease of metabolism
DOID:0040085 bacterial sepsis
DOID:0050156 idiopathic pulmonary fibrosis
DOID:0050336 hypophosphatemia
DOID:0050387 nonpapillary renal cell carcinoma
DOID:0050424 familial adenomatous polyposis
DOID:0050445 X-linked dominant hypophosphatemic rickets
DOID:0050459 hyperphosphatemia
DOID:0050569 Seckel syndrome
DOID:0050572 cone-rod dystrophy
The Human Phenotype Ontology
Displaying entries 11 - 14 of 14 in total
HPO ID HPO Term
HP:0005450 Calvarial osteosclerosis
HP:0006051 Metacarpal periosteal thickening
HP:0008208 Parathyroid hyperplasia
HP:0012378 Fatigue
Displaying 1 entry
Disease ID Disease Name
OMIM:617994
  • tumoral calcinosis, hyperphosphatemic, familial, 3

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024