GeneID: 58



Names

Common Name: KL Type: Gene
Chromosome: 13 (NC_000013.11) Locus: NG_011485.1 (KL)
HUGO Symbol: KL Full Name: klotho
Exons: 5 Introns: 4

Description:
The encoded protein is related to family 1 β-glucosidase enzymes, which hydrolyse the glycosidic bond in complex sugars. It participates in a negative regulatory circuit of the vitamin D metabolic pathway that controls mineral ion homeostasis, and may be important for a variety of other processes, including regulation of antioxidative defense, angiogenesis and skeletogenesis. It plays an important role in aging and senescence-related disorders. Reduced production of this protein has been observed in patients with chronic renal failure (CRF), and this may be one of the factors underlying the degenerative processes (e.g., arteriosclerosis, osteoporosis, and skin atrophy) seen in CRF. Polymorphisms in this gene associated with osteonecrosis, priapism, leg ulceration and HbF levels in African American sickle cell patients.

Synonyms: N/A

Comments:
N/A

Sequence Viewer

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Publications / Origin

  1. Baldwin C, Nolan VG, Wyszynski DF, Ma QL, Sebastiani P, Embury SH, Bisbee A, Farrell J, Farrer L, Steinberg MH, Association of klotho, bone morphogenic protein 6, and annexin A2 polymorphisms with sickle cell osteonecrosis., Blood , 106(1), 372-5, 2005 PubMed
  2. Nolan VG, Adewoye A, Baldwin C, Wang L, Ma Q, Wyszynski DF, Farrell JJ, Sebastiani P, Farrer LA, Steinberg MH, Sickle cell leg ulcers: associations with haemolysis and SNPs in Klotho, TEK and genes of the TGF-beta/BMP pathway., Br. J. Haematol. , 133(5), 570-8, 2006 PubMed
  3. Elliott L, Ashley-Koch AE, De Castro L, Jonassaint J, Price J, Ataga KI, Levesque MC, Brice Weinberg J, Eckman JR, Orringer EP, Vance JM, Telen MJ, Genetic polymorphisms associated with priapism in sickle cell disease., Br. J. Haematol. , 137(3), 262-7, 2007 PubMed
  4. Sebastiani P, Wang L, Nolan VG, Melista E, Ma Q, Baldwin CT, Steinberg MH, Fetal hemoglobin in sickle cell anemia: Bayesian modeling of genetic associations., Am. J. Hematol. , 83(3), 189-95, 2008 PubMed
  5. Wang Y, Sun Z, Current understanding of klotho., Ageing Res. Rev. , 8(1), 43-51, 2009 PubMed
Created on 2016-04-25 18:59:55, Last reviewed on 2016-04-25 19:03:48 (Show full history)


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