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Ketohexokinase (KHK)

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Hepatic Fructokinase

Ketohexokinase (KHK)
CCC H758
HGNC 6315
MGI 1096353
PubMed 19365088
RGD 2966
UniProt P50053
Wiki KHK
This is a benign, asymptomatic defect of intermediary metabolism. The enzyme involved is hepatic fructokinase, also known as ketohexokinase (KHK; EC 2.7.1.3). This enzyme catalyzes the first step of metabolism of dietary fructose, conversion of fructose to fructose-1-phosphate.
The KHK proteins show a high level of sequence conservation relative to rat KHK. In a well-characterized family in which 3 of 8 sibs had fructosuria, all affected individuals were found to be compound heterozygotes for 2 mutations: gly40-to-arg and ala43-to-thr. Both mutations resulted from a G-to-A transition, and each altered the same conserved region of the KHK protein. Neither mutation was seen in a sample of 52 unrelated control individuals.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Ketohexokinase (KHK) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Ketohexokinase (KHK) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Ketohexokinase (KHK) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Ketohexokinase (KHK) CLIA Kit Customized Service Offer
n/a ELISA Kit for Ketohexokinase (KHK) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Ketohexokinase (KHK) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Ketohexokinase (KHK) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Ketohexokinase (KHK) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Ketohexokinase (KHK) CLIA Kit Customized Service Offer
n/a ELISA Kit for Ketohexokinase (KHK) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Ketohexokinase (KHK) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Ketohexokinase (KHK) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Ketohexokinase (KHK) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Ketohexokinase (KHK) CLIA Kit Customized Service Offer
n/a ELISA Kit for Ketohexokinase (KHK) ELISA Kit Customized Service Offer
  1. "Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase)."Hum. Mol. Genet. 3:1627-1631(1994) [PubMed] [Europe PMC] [Abstract]
  2. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  4. "Structure and alternative splicing of the ketohexokinase gene."Eur. J. Biochem. 257:85-91(1998) [PubMed] [Europe PMC] [Abstract]
  5. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  6. "Structures of alternatively spliced isoforms of human ketohexokinase."Acta Crystallogr. D 65:201-211(2009) [PubMed] [Europe PMC] [Abstract]
  7. "Properties of normal and mutant recombinant human ketohexokinases and implications for the pathogenesis of essential fructosuria."Diabetes 52:2426-2432(2003) [PubMed] [Europe PMC] [Abstract]