1. Gene
  2. KHK - ketohexokinase Gene

KHK - ketohexokinase Gene

Homo sapiens

Also known as FRUCTU

Gene ID: 3795 | Gene type: protein coding

About KHK

Cytogenetic location: 2p23.3 Genomic coordinates (GRCh38): 2:27,086,772-27,100,762 (from NCBI)

This gene has 6 transcripts (splice variants), 199 orthologues, 3 paralogues and is associated with 2 phenotypes. Biased expression in kidney (RPKM 77.2), liver (RPKM 59.5) and 2 other tissues.

Summary

This gene encodes ketohexokinase that catalyzes conversion of fructose to fructose-1-phosphate. The product of this gene is the first Enzyme with a specialized pathway that catabolizes dietary fructose. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

KHK Products(2)

mRNA Protein Name
NM_000221.3 NP_000212.1 ketohexokinase isoform a
NM_006488.3 NP_006479.1 ketohexokinase isoform b

KHK Protein Structure

PfkB

PfkB: pfkB family carbohydrate kinase (4 - 290)

  • 0
  • 100
  • 200
  • 298 a.a.
Protein Preferred Names Protein Names

ketohexokinase

fructokinase

Recombinant KHK Proteins

Cat. No. Product Name Accession Purity
HY-P70146 Ketohexokinase/KHK Protein, Human (HEK293, His) AAH06233.1 (M1-V298) ≥95%

Related Diseases

Diseases Alias
Fructosuria, Essential

Essential Fructosuria

Ketohexokinase Deficiency

Fructosuria

Hepatic Fructokinase Deficiency

Fructokinase Deficiency

FRUCT

Deficiency Of Fructokinase

Advanced Sleep Phase Syndrome, Familial, 3

Advanced Sleep Phase Syndrome 3

FASPS3

Familial Advanced Sleep Phase Syndrome 3

Sleep Phase Syndrome, Advanced, Familial, Type 3

Basidiobolomycosis

Infection By Basidiobolus

Subcutaneous Mucoromycosis Due To Basidiobolus Ranarum

Retinitis Pigmentosa 62

RP62

Retinitis Pigmentosa, Type 62

Lumbosacral Lipoma
Fructose Intolerance, Hereditary

Hereditary Fructose Intolerance

Fructose Intolerance

Fructose-1-Phosphate Aldolase Deficiency

Fructose-1,6-Bisphosphate Aldolase B Deficiency

Aldolase B Deficiency

Fructosemia

Aldob Deficiency

Hereditary Fructose Intolerance Syndrome

HFI

Fructosaemia

Hereditary Fructose-1-Phosphate Aldolase Deficiency

Fructose Aldolase B Deficiency

Fructose-1,6-Biphosphate Aldolase Deficiency

Hereditary Fructosemia

Fructosemia, Hereditary

Hereditary Fructosaemia

Fructose-Biphosphate Aldolase B Deficiency

Fructose Intolerance Of Newborn

Aldb - [Aldolase B] Deficiency

Deficiency Of Fructose-Bisphosphate Aldolase

Renal Artery Atheroma

Atherosclerosis Of Renal Artery

Renal Atherosclerosis

Atherosclerotic Renal Disease

Ras - [Renal Artery Stenosis]

Renal Arterial Arteriosclerosis

Renal Arterial Arteriosclerotic Disease

Renal Arterial Stricture

Renal Artery Stricture

Renal Artery Stenosis Of Unknown Cause

Renal Artery Stenosis Due To Atherosclerosis

Renal Artery Stenosis

Renal Artery Arteriosclerotic Disease

Renal Artery Arteriosclerosis

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
Canis familiaris KHK VGNC VGNC:42338
Felis catus KHK VGNC VGNC:67937
Rattus norvegicus KHK RGD RGD:2966
Macaca mulatta KHK VGNC VGNC:74014
Mus musculus KHK MGD MGI:1096353
Bos taurus KHK VGNC VGNC:30543
Others KHK NCBI