KL - klotho Gene

Also Known as KLA; HFTC3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9365

About KL

Cytogenetic location: 13q13.1 Genomic coordinates (GRCh38): 13:33,016,243-33,066,143 (from NCBI)

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
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KL Protein Structure

Glyco_hydro_1

Glyco_hydro_1: Glycosyl hydrolase family 1 (58 - 369)

Glyco_hydro_1

Glyco_hydro_1: Glycosyl hydrolase family 1 (389 - 506)

Glyco_hydro_1

Glyco_hydro_1: Glycosyl hydrolase family 1 (517 - 952)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1012 a.a.
Protein Preferred Names Protein Names

klotho

  • alpha-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
  • HFTC3

Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
  • Hyperphosphatemic Familial Tumoral Calcinosis

  • Hftc

  • Hyperostosis-Hyperphosphatemia Syndrome

  • Familial Hyperphosphatemic Tumoral Calcinosis/Hyperphosphatemic Hyperostosis Syndrome

  • Tumoral Calcinosis, Hyperphosphatemic, Familial

  • Phptc

  • Lipocalcinogranulomatosis

  • Morbus Teutschlaender

  • Hhs

  • Hyperostosis With Hyperphosphatemia

  • Cortical Hyperostosis With Hyperphosphatemia

  • Primary Hyperphosphatemic Tumoral Calcinosis

  • Familial Tumoral Calcinosis

  • HFTC1

  • Hypercalcemic Tumoral Calcinosis

  • Hyperphosphatemia Hyperostosis

  • Hyperphosphatemia Hyperostosis Syndrome

  • Hyperphosphatemia Tumoral Calcinosis

  • Tumoral Calcinosis

  • Calcinosis, Tumoral, With Hyperphosphatemia

  • Tumoral Calcinosis, Primary Hyperphosphatemic

  • Teutschlaender Disease, Familial

  • Familial Teutschlaender Disease

  • Tumoral Calcinosis With Hyperphosphatemia

  • Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome

  • Ftc/Hhs

  • Familial Tumoral Calcinosis With Hyperphosphatemia

  • Teutschlaender Disease

  • Tumoral Calcinosis Primary Hyperphosphatemic

  • Calcinosis, Tumoral, Hyperphosphatemic, Familial

Calcinosis
  • Pathologic Calcification

  • Pathologically Calcified Structure

Skin Atrophy
  • Atrophic Condition Of Skin

  • Atrophoderma

  • Atrophy - Skin

Priapism
  • Mentulagra

  • Priapism, Familial Idiopathic

  • Familial Idiopathic Priapism

  • Pathologic Erection

  • Painful Erection

Rickets
  • Vitamin D Deficiency

  • Vitamin D

  • Active Rickets

  • Hypovitaminosis D

  • Nutritional Rickets

  • Vitamin D Deficiency Disease

  • Vitamin-D Deficiency Rickets

  • Vitamin D-Dependent Rickets

  • Avitaminosis D

  • Infantile Osteomalacia

  • Juvenile Osteomalacia

Hypophosphatemic Rickets And Hyperparathyroidism
  • Hypophosphatemic Rickets With Hyperparathyroidism

Hyperphosphatemia
Hypervitaminosis D
  • Vitamin D Hyperalimentation

Phosphorus Metabolism Disease
  • Phosphorus Metabolism Disorders

  • Disorder Of Phosphorus Metabolism

  • Phosphorus Disorder

  • Phosphorus Metabolism Disorder

Hypophosphatemia
  • Vitamin D-Resistant Rickets

  • Hereditary Hypophosphatemic Rickets

  • Vdrr

  • Vitamin D Resistant Rickets

  • Hypophosphatemic Rickets, X-Linked Dominant

  • Familial Hypophosphatemic Rickets

Secondary Hyperparathyroidism
  • Hyperparathyroidism Secondary

  • Hyperparathyroidism, Secondary

  • Secondary Hyperparathyroidism Nec

Mineral Metabolism Disease
  • Mineral Metabolism Disorder

  • Disorder Of Mineral Metabolism

Hyperostosis
  • Hypertrophy Of Bone

  • Bone Hypertrophy

  • Bone Thickening

  • Periosteum Thickening

Osteoporosis
  • Postmenopausal Osteoporosis

  • Osteoporosis, Postmenopausal

  • Bone Mineral Density Quantitative Trait Locus

  • Bmnd

  • Osteoporosis, Involutional

  • Osteoporosis, Susceptibility To

  • Osteoporosis, Postmenopausal, Susceptibility

  • Bone Mineral Density Variation Qtl, Osteoporosis

  • OSTEOP

  • Involutional Osteoporosis

  • Senile Osteoporosis

  • Osteoporosis Postmenopausal

  • Bone Mineral Density, Quantitative Trait Locus

  • Osteoporosis, Senile

  • Idiopathic Osteoporosis

  • Bone Rarefaction Nos

  • Type 1 Osteoporosis

Hyperparathyroidism
  • Hyperparathyroidism And Other Disorders Of Parathyroid Gland

  • Parathyroid Hyperfunction

  • Hpth - [Hyperparathyroidism]

  • Parathyroid Gland Hyperfunction

  • Parathyroid Glandular Hyperfunction

Uremia
  • Uremia Of Renal Origin

Hypophosphatemic Rickets, Autosomal Dominant
  • Autosomal Dominant Hypophosphatemic Rickets

  • ADHR

  • Autosomal Dominant Hypophosphatemia

  • Vitamin D-Resistant Rickets, Autosomal Dominant

  • Hypophosphatemia, Autosomal Dominant

  • Autosomal Dominant Vitamin D-Resistant Rickets

  • Rickets, Hypophosphatemic, Autosomal Dominant

Chronic Kidney Disease
  • Chronic Renal Disease

  • Chronic Kidney Failure

  • Ckd

  • Chronic Renal Failure

  • Kidney Failure, Chronic

  • Chronic Renal Failure Syndrome

  • Crf

  • Renal Failure - Chronic

  • Renal Failure Chronic

  • Chronic Kidney Diseases

  • Chronic Kidney Disease Stage 5

  • Ckd - [Chronic Kidney Disease]

  • Crf - [Chronic Renal Failure]

  • Chronic Kidney Impairment

  • Chronic Renal Impairment

  • Chronic Kidney Shutdown

  • Chronic Hypoxic Kidney Failure

  • Chronic Kidney Collapse

  • Chronic Renal Insufficiency

  • Chronic Kidney Toxaemia

  • Chronic Kidney Hypofunction

  • Chronic Renal Suppression

  • Chronic Renal Failure, Stage 5

  • Ckd - [Chronic Kidney Disease] Stage 5

  • End Stage Kidney Failure

  • End Stage Renal Failure

  • End Stage Kidney Disease

  • End Stage Renal Disease

  • End Stage Chronic Renal Failure

  • Esrf - [End Stage Renal Failure]

  • Esrd - [End Stage Renal Diseases]

  • Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²

Hypophosphatemic Rickets, X-Linked Dominant
  • X-Linked Hypophosphatemia

  • Xlh

  • Vitamin D-Resistant Rickets, X-Linked

  • X-Linked Hypophosphatemic Rickets

  • XLHR

  • Hyp

  • Hypophosphatemic Vitamin D-Resistant Rickets

  • Hpdr

  • X-Linked Dominant Hypophosphatemic Rickets

  • Familial Hypophosphatemic Rickets

  • Hypophosphatemia, X-Linked

  • Hypophosphatemia, Vitamin D-Resistant Rickets

  • Hypophosphatemic Rickets X-Linked Dominant

  • X-Linked Vitamin D-Resistant Rickets

  • Hypophophatemia, X-Linked

  • Hypophophatemic Vitamin D-Resistant Rickets

  • Hypophosphatemia X-Linked

  • Vitamin D-Resistant Rickets X-Linked

  • Vitamin D-Resistant Rickets

  • Rickets, X-Linked Hypophosphatemic

Parathyroid Gland Disease
  • Parathyroid Diseases

  • Disease Of Parathyroid Glands

  • Parathyroid Disease

Autosomal Recessive Hypophosphatemic Rickets
  • Arhr

  • Hypophosphatemic Rickets, Autosomal Recessive

  • Autosomal Recessive Hypophosphatemic Vitamin D Refractory Rickets

Arteriosclerosis
  • Arteriosclerotic Vascular Disease

Enthesopathy
  • Rheumatism

Dental Abscess
Osteoglophonic Dysplasia
  • Osteoglophonic Dwarfism

  • OGD

  • Fairbank-Keats Syndrome

  • Osteoglosphonic Dysplasia

  • Dysplasia, Osteoglophonic

Tracheal Calcification
  • Calcification Of Trachea

Dental Pulp Calcification
  • Pulp Calcification

  • Pulp Calcifications

  • Pulpal Calcifications

  • Dental Pulp Stone

Hypophosphatemic Rickets With Hypercalciuria, Hereditary
  • Hereditary Hypophosphatemic Rickets With Hypercalciuria

  • HHRH

  • Hypophosphatemic Rickets With Hypercalciuria

  • Hypercalciuric Rickets

Kidney Hypertrophy
  • Hypertrophy Of Kidney

Ureteral Disease
  • Ureteral Diseases

  • Ureteral Disorders

  • Disorder Of Ureter

Beta-Thalassemia
  • Beta Thalassemia

  • Cooley'S Anemia

  • Mediterranean Anemia

  • Beta Thalassemia Intermedia

  • Erythroblastic Anemia

  • Thalassemia, Hispanic Gamma-Delta-Beta

  • Thalassemia Major

  • Thalassemia Minor

  • Beta-Plus-Thalassemia

  • Thalassemia, Beta

  • Beta Thalassemia Major

  • Beta Thalassemia Minor

  • Thalassemias, Beta-

  • Microcytemia, Beta Type

  • Thalassemia, Beta Type

  • B-THAL

  • Mediterranean Anaemia

  • Beta Thalassaemia Syndrome

  • Mediterranean Disease

  • Beta Thalassaemia Disease

Kidney Disease
  • Renal Failure

  • Kidney Failure

  • Kidney Diseases

  • Nephropathy

  • Abnormality Of The Kidney

  • Impaired Renal Function Disease

  • Renal Anomaly

  • Kidney Dysfunction

  • Renal Disease

  • Nephropathies

  • Renal Failure Adverse Event

  • Abnormal Renal Function

Arterial Calcification Of Infancy
  • Idiopathic Infantile Arterial Calcification

  • Generalized Arterial Calcification Of Infancy

  • Iiac

  • Occlusive Infantile Arteriopathy

  • Infantile Arteriosclerosis

  • Gaci

  • Idiopathic Obliterative Arteriopathy

  • Generalized Arterial Calcification In Infancy

  • Arteriopathia Calcificans Infantum

  • Diffuse Arterial Calcifying Elastopathy Of Infancy

  • Infantile Calcifying Arteriopathy

  • Medial Coronary Sclerosis Of Infancy

  • Coronary Sclerosis, Medial, Of Infancy

  • Calcification, Arterial, Generalized, Infancy

Conjunctival Deposit
Urinary Tract Obstruction
  • Obstructive Uropathy

  • Urinary Obstruction

  • Urologic Diseases

Bone Remodeling Disease
Primary Hyperparathyroidism
  • Familial Primary Hyperparathyroidism

  • Hyperparathyroidism, Primary

  • Hyperparathyroidism Primary

  • Hypocalciuric Hypercalcemia, Familial, Type 1

  • Familial Benign Hypercalcemia

  • Familial Hyperparathyroidism

  • Parathyroid Enlargement

Long Qt Syndrome
  • Romano-Ward Syndrome

  • Long Q-T Syndrome

  • Lqt

  • Qt Syndrome, Long

  • Congenital Long Qt Syndrome

  • Familial Long Qt Syndrome

Schimmelpenning-Feuerstein-Mims Syndrome
  • Nevus Sebaceus Of Jadassohn

  • Organoid Nevus Phakomatosis

  • Linear Nevus Sebaceous Syndrome

  • Sfm Syndrome

  • Jadassohn Nevus Phakomatosis

  • Jnp

  • Schimmelpenning Syndrome

  • Solomon Syndrome

  • SFM

  • Linear Sebaceous Nevus Syndrome

  • Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

  • Nevus Sebaceus Syndrome

  • Organoid Nevus Syndrome

  • Schimmelpenning Feuerstein Mims Syndrome

  • Sebaceous Nevus Syndrome, Linear

  • Epidermal Nevus Syndrome, Formerly

  • Sebaceous Nevus Syndrome Linear

  • Linear Nevus Sebaceus Syndrome

  • Epidermal Nevus Syndrome

  • Ss

  • Nevus Sebaceous

Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
  • Hypophosphatemic Nephrolithiasis/Osteoporosis 1

  • NPHLOP1

  • Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1

  • Nephrolithiasis/Osteoporosis, Hypophosphatemic, Type 1

Hyperlipoproteinemia, Type V
  • Hyperlipoproteinemia Type V

  • Hyperchylomicronemia, Late-Onset

  • Familial Type 5 Hyperlipoproteinemia

  • Hyperchylomicronemia With Hyperprebetalipoproteinemia, Familial

  • Hyperlipidemia, Type V

  • Hyperlipemia, Mixed

  • Hyperlipemia, Combined Fat And Carbohydrate-Induced

  • Familial Hyperlipoproteinemia Type V

  • Fredrickson Type V Lipaemia

  • Hyperlipoproteinemia Type 5

  • Hyperchylomicronemia Late Onset

  • Hyperlipemia Combined Fat And Carbohydrate-Induced

  • Hyperlipemia Mixed

  • Hyperlipidemia Type V

  • Mixed Hyperlipemia

  • Type V Hyperlipoproteinemia

  • Hyperlipoproteinemia 5

  • HLPP5

  • Hyperlipidemia, Familial Combined

  • Mixed Hyperlipidemia

Diabetes Mellitus
  • Diabetes

Cataract
  • Cataracts

  • Cat - [Cataract]

  • Cataract Form

  • Lens Opacity

  • Lens Opacities

Hypertension, Essential
  • Essential Hypertension

  • Hypertension

  • High Blood Pressure

  • Hypertension, Essential, Susceptibility To

  • Hypertensive Disease

  • Primary Hypertension

  • EHT

  • Hypertension, Salt-Sensitive Essential, Susceptibility To

  • Hyperpiesia

  • Idiopathic Hypertension

  • Hypertensive Disorder

  • Hypertension, Essential, Susceptibility To, 3

  • Hypertension, Essential 3

  • Hypertension, Essential, Salt-Sensitive

  • Hypertension, Essential, Susceptibility To, 6

  • Hypertension, Essential 6

  • Hypertension, Salt-Sensitive Essential

  • Hypertension, Susceptibility To

  • Hypertension, Essential, Susceptibility To, 4

  • Hypertension, Essential 4

  • Hypertension, Essential, Susceptibility To, 2

  • Hypertension, Essential 2

  • Hypertension, Essential, Susceptibility To, 1

  • Hypertension, Essential 1

  • Hypertension, Essential, Susceptibility To, 5

  • Hypertension, Essential 5

  • Htn

  • Vascular Hypertensive Disorder

  • Systemic Primary Arterial Hypertension

  • Hbp - [High Blood Pressure]

  • Systemic Arterial Hypertensive Disorder

  • Elevated Blood Pressure

  • Arterial Hypertension Nos

  • Hypertension Nos

  • Benign Hypertension

  • Systemic Arterial Hypertension

  • Systemic Hypertension

  • Artery Htn

  • Benign Htn

  • Vascular Htn

  • Vascular Hypertension

  • Cholesterol Hypertension

  • Cholesterol Htn

  • Idiopathic Htn

  • Malignant Hypertension

  • Malignant Htn

  • Raised Blood Pressure

  • Cardiovascular Hypertension

  • Primary Htn - [Hypertension]

  • High Arterial Tension

  • High Blood Pressure Disorder

  • Ht - [Hypertension]

  • Htn - [Hypertension]

  • Hypertensive Vascular Disease

  • Hypertensive Vascular Degeneration

Fanconi Syndrome
  • Infantile Nephropathic Cystinosis

  • Adult Fanconi Syndrome

  • Congenital Fanconi Syndrome

  • De Toni-Fanconi Syndrome

  • Fanconi-De Toni Syndrome

  • Lignac-Fanconi Syndrome

  • Fanconi Renotubular Syndrome

  • Primary Fanconi Renotubular Syndrome

  • De Toni-Debre-Fanconi Syndrome

  • Adult Fanconi Anemia

  • Detoni Fanconi Syndrome

  • Fanconi-De-Toni Syndrome

  • Primary Fanconi Syndrome

  • Detoni-Debre-Fanconi Syndrome

  • Primary Fanconi Renal Syndrome

  • Fanconi Anemia

  • Cystinosis, Infantile Nephropathic

  • Fanconi-Bickel Syndrome

  • Renal Fanconi Syndrome

  • Lowe-Bickel Syndrome

Autosomal Dominant Polycystic Kidney Disease
  • Polycystic Kidney Disease, Adult Type

  • Adpkd

  • Polycystic Kidney Diseases

  • Polycystic Kidney, Autosomal Dominant

  • Congenital Biliary Ectasias

  • Polycystic Kidney And Hepatic Disease 1

  • Polycystic Kidney Disease, Autosomal Dominant

  • Kidney, Polycystic, Disease, Autosomal Dominant

  • Adult Polycystic Kidney Disease

  • Polycystic Kidney, Adult Type

  • Apckd - [Autosomal Polycystic Kidney Disease]

Polycystic Kidney Disease
  • Polycystic Kidney Diseases

  • Pkd

  • Polycystic Renal Disease

  • Kidney Disease, Polycystic

  • Polycystic Kidney, Autosomal Dominant

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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