KL - klotho Gene
Also Known as KLA; HFTC3
Species: Homo sapiens
About KL
This gene has 2 transcripts (splice variants), 202 orthologues, 4 paralogues and is associated with 2 phenotypes. Biased expression in kidney (RPKM 80.6), placenta (RPKM 14.7) and 1 other tissue.
Summary
This gene encodes a type-I membrane protein that is related to beta-glucosidases. 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. Also, mutations within this protein have been associated with ageing and bone loss. [provided by RefSeq, Jul 2008]
KL Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_004795.4 | NP_004786.2 | klotho precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables fibroblast growth factor binding |
IPI
IPI: Inferred from physical interaction
|
18829467 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in positive regulation of bone mineralization |
IMP
IMP: Inferred from mutant phenotype
|
12110410 | GOA |
KL Protein Structure
Glyco_hydro_1: Glycosyl hydrolase family 1 (58 - 369)
Glyco_hydro_1: Glycosyl hydrolase family 1 (389 - 506)
Glyco_hydro_1: Glycosyl hydrolase family 1 (517 - 952)
- 0
- 200
- 400
- 600
- 800
- 1012 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
klotho |
|
Recombinant KL Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P700011 | Klotho Protein, Human (CHO, His) | Q9UEF7 (E34-S981) | ≥ 95%, as determined by reducing SDS-PAGE. |
KL Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P83610 | Klotho Antibody (YA3355) | WB, IHC-P | Human, Mouse |
| HY-P87179 | Klotho Antibody(YA6870) | WB, IHC-P | Human, Mouse |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
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| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
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| Calcinosis |
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| Skin Atrophy |
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| Priapism |
|
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| Rickets |
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| Hypophosphatemic Rickets And Hyperparathyroidism |
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| Hyperphosphatemia |
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| Hypervitaminosis D |
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| Phosphorus Metabolism Disease |
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| Hypophosphatemia |
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| Secondary Hyperparathyroidism |
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| Mineral Metabolism Disease |
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| Hyperostosis |
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| Osteoporosis |
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| Hyperparathyroidism |
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| Uremia |
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| Hypophosphatemic Rickets, Autosomal Dominant |
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| Chronic Kidney Disease |
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| Hypophosphatemic Rickets, X-Linked Dominant |
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| Parathyroid Gland Disease |
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| Autosomal Recessive Hypophosphatemic Rickets |
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| Arteriosclerosis |
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| Enthesopathy |
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| Dental Abscess |
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| Osteoglophonic Dysplasia |
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| Tracheal Calcification |
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| Dental Pulp Calcification |
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| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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| Kidney Hypertrophy |
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| Ureteral Disease |
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| Beta-Thalassemia |
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| Kidney Disease |
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| Arterial Calcification Of Infancy |
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| Conjunctival Deposit |
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| Urinary Tract Obstruction |
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| Bone Remodeling Disease |
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| Primary Hyperparathyroidism |
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| Long Qt Syndrome |
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| Schimmelpenning-Feuerstein-Mims Syndrome |
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| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
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| Hyperlipoproteinemia, Type V |
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| Diabetes Mellitus |
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| Cataract |
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| Hypertension, Essential |
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| Fanconi Syndrome |
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| Autosomal Dominant Polycystic Kidney Disease |
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| Polycystic Kidney Disease |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | KL | MGD | MGI:1101771 |
| Felis catus | KL | VGNC | VGNC:67951 |
| Macaca mulatta | KL | VGNC | VGNC:74026 |
| Bos taurus | KL | VGNC | VGNC:30621 |
| Rattus norvegicus | KL | RGD | RGD:620396 |
| Canis familiaris | KL | VGNC | VGNC:42425 |
| Others | KL | NCBI |