The protein encoded by this gene belongs to the FGGY kinase family. This protein is a key enzyme in the regulation of glycerol uptake and metabolism. It catalyzes the phosphorylation of glycerol by ATP, yielding ADP and glycerol-3-phosphate. Mutations in this gene are associated with glycerol kinase deficiency (GKD). Alternatively spliced transcript variants encoding different ... See more...

Aliases for GK Gene

Aliases for GK Gene

  • Glycerol Kinase 2 3 4 5
  • ATP:Glycerol 3-Phosphotransferase 3 4
  • Glycerokinase 3 4
  • EC 2.7.1.30 4 50
  • GK1 2 3
  • GKD 2 3
  • GK 5

External Ids for GK Gene

Previous GeneCards Identifiers for GK Gene

  • GC0XP029171
  • GC0XP029355
  • GC0XP029873
  • GC0XP030032
  • GC0XP030431
  • GC0XP030581
  • GC0XP030671
  • GC0XP028409
  • GC0XP030691

Summaries for GK Gene

Entrez Gene Summary for GK Gene

  • The protein encoded by this gene belongs to the FGGY kinase family. This protein is a key enzyme in the regulation of glycerol uptake and metabolism. It catalyzes the phosphorylation of glycerol by ATP, yielding ADP and glycerol-3-phosphate. Mutations in this gene are associated with glycerol kinase deficiency (GKD). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

GeneCards Summary for GK Gene

GK (Glycerol Kinase) is a Protein Coding gene. Diseases associated with GK include Glycerol Kinase Deficiency and Adrenal Hypoplasia, Congenital. Among its related pathways are triacylglycerol biosynthesis and glycerol degradation. Gene Ontology (GO) annotations related to this gene include kinase activity and glycerol kinase activity. An important paralog of this gene is GK3P.

UniProtKB/Swiss-Prot Summary for GK Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GK Gene

Genomics for GK Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GK Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ030651 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 289.8 +4.4 4394 12.4 SP1 ZNF600 IKZF1 SSRP1 ZNF580 ZNF592 POLR2A CEBPA ZIC2 YY1 GK RF00017-7667 piR-57460-707 TASL GK-AS1 HSALNG0137203 RF00017-7668 lnc-CXorf21-3 TAB3
GH0XJ030625 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 33.4 -25.7 -25673 3.5 CEBPA ATF3 YY1 CEBPB FOXA1 THAP11 FOXA2 KDM6A RXRA ETV4 GK TASL FTLP2 HSALNG0137200
GH0XJ030574 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 16 -77.1 -77112 5.3 BCLAF1 SP1 ZNF207 POLR2A BCL11A IRF4 ZBTB33 EBF1 CBFB SMARCA5 TASL GK HSALNG0137189 NR0B1
GH0XJ030620 Enhancer 1 FANTOM5 ENCODE dbSUPER 24.1 -32.1 -32115 1 JUND PRDM10 ATF1 MAFK NR2C1 POLR2A ATF3 FOS ATF2 EP300 HSALNG0137200 GK TASL FTLP2
GH0XJ030596 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 21.4 -55.6 -55560 2 BCLAF1 BCL11A TRIM22 GABPA IRF4 EBF1 SMARCA5 SPI1 BATF FOXA1 GK TASL L13714-490 HSALNG0137193
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GK on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GK

Top Transcription factor binding sites by QIAGEN in the GK gene promoter:
  • PPAR-gamma1
  • PPAR-gamma2
  • STAT3

Genomic Locations for GK Gene

Latest Assembly
chrX:30,653,348-30,731,462
(GRCh38/hg38)
Size:
78,115 bases
Orientation:
Plus strand

Previous Assembly
chrX:30,671,540-30,749,579
(GRCh37/hg19 by Entrez Gene)
Size:
78,040 bases
Orientation:
Plus strand

chrX:30,671,476-30,748,725
(GRCh37/hg19 by Ensembl)
Size:
77,250 bases
Orientation:
Plus strand

Genomic View for GK Gene

Genes around GK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GK Gene

Proteins for GK Gene

  • Protein details for GK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P32189-GLPK_HUMAN
    Recommended name:
    Glycerol kinase
    Protein Accession:
    P32189
    Secondary Accessions:
    • A6NJP5
    • B2R833
    • Q6IQ27
    • Q8IVR5
    • Q9UMP0
    • Q9UMP1

    Protein attributes for GK Gene

    Size:
    559 amino acids
    Molecular mass:
    61245 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAA48346.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for GK Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GK Gene

Selected DME Specific Peptides for GK Gene

P32189:
  • TGGVNGG
  • AMNRDCGIPL
  • KNTYGTG
  • YFVPAFS
  • LMQLQAD
  • VPAFSGL
  • HGLLTTVA
  • TGEPLYNA
  • GTIDSWL
  • LFNIHSL
  • TDVTNASRT
  • YALEGSVAIAGA
  • MERFEPQI
  • EGWVEQDPKEIL
  • YYALEGS
  • CGLTQFTNKCHIAFAALEAVCFQTREIL
  • NASRTML
  • ETTALGA
  • NIDISNIKA
  • STRFLVF
  • GALEGVPISGCLGDQ
  • SVYECIEKTCEKLGQLNI
  • TYGTGCF
  • NQRETTV
  • TGLPLSTYF
  • AVMKSMGWVT
  • PLYNAVVWLDLRTQSTVE

Post-translational modifications for GK Gene

  • Ubiquitination at Lys31 and Lys86
  • Modification sites at PhosphoSitePlus

Domains & Families for GK Gene

Gene Families for GK Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for GK Gene

Suggested Antigen Peptide Sequences for GK Gene

GenScript: Design optimal peptide antigens:
  • ATP:glycerol 3-phosphotransferase (GLPK_HUMAN)
  • Glycerol kinase (Q6IQ27_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P32189

UniProtKB/Swiss-Prot:

GLPK_HUMAN :
  • Belongs to the FGGY kinase family.
Family:
  • Belongs to the FGGY kinase family.
genes like me logo Genes that share domains with GK: view

Function for GK Gene

Molecular function for GK Gene

UniProtKB/Swiss-Prot Function:
Key enzyme in the regulation of glycerol uptake and metabolism.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + glycerol = ADP + H(+) + sn-glycerol 3-phosphate; Xref=Rhea:RHEA:21644, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:30616, ChEBI:CHEBI:57597, ChEBI:CHEBI:456216; EC=2.7.1.30;.
GENATLAS Biochemistry:
glycerol kinase,cytosolic

Enzyme Numbers (IUBMB) for GK Gene

Phenotypes From GWAS Catalog for GK Gene

Gene Ontology (GO) - Molecular Function for GK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004370 glycerol kinase activity IEA,NAS 8401584
GO:0005515 protein binding IPI 21988832
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
genes like me logo Genes that share ontologies with GK: view
genes like me logo Genes that share phenotypes with GK: view

Human Phenotype Ontology for GK Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for GK Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GK

Clone products for research

  • Addgene plasmids for GK

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for GK Gene

Localization for GK Gene

Subcellular locations from UniProtKB/Swiss-Prot for GK Gene

Mitochondrion outer membrane. Peripheral membrane protein. Cytoplasmic side. Cytoplasm. Note=In sperm and fetal tissues, the majority of the enzyme is bound to mitochondria, but in adult tissues, such as liver found in the cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GK gene
Compartment Confidence
mitochondrion 5
cytosol 5
extracellular 4
peroxisome 3
plasma membrane 2
nucleus 2
endoplasmic reticulum 2
cytoskeleton 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for GK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IBA 21873635
GO:0005741 mitochondrial outer membrane IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with GK: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GK Gene

Pathways & Interactions for GK Gene

genes like me logo Genes that share pathways with GK: view

UniProtKB/Swiss-Prot P32189-GLPK_HUMAN

  • Pathway: Polyol metabolism; glycerol degradation via glycerol kinase pathway; sn-glycerol 3-phosphate from glycerol: step 1/1.

SIGNOR curated interactions for GK Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for GK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006071 glycerol metabolic process IMP 8499898
GO:0006072 glycerol-3-phosphate metabolic process IEA --
GO:0006641 triglyceride metabolic process IBA,IMP 8651297
GO:0016310 phosphorylation IEA,IBA 21873635
genes like me logo Genes that share ontologies with GK: view

Drugs & Compounds for GK Gene

(11) Drugs for GK Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycerol Approved, Investigational Pharma 207
Norepinephrine Approved Pharma 1019
ATP Investigational Nutra 0

(10) Additional Compounds for GK Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
58-64-0
glycerol 3-phosphate
  • (R)-Glycerol 1-phosphate
  • D-(Glycerol 1-phosphate)
  • D-Glycerol 1-phosphate
  • Glycerol-3-phosphate
  • Glycerophosphoric acid
57-03-4
genes like me logo Genes that share compounds with GK: view

Transcripts for GK Gene

mRNA/cDNA for GK Gene

4 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GK

Clone products for research

  • Addgene plasmids for GK

Alternative Splicing Database (ASD) splice patterns (SP) for GK Gene

No ASD Table

Relevant External Links for GK Gene

GeneLoc Exon Structure for
GK

Expression for GK Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GK Gene

This gene is overexpressed in Whole Blood (x13.9) and Liver (x9.0).

Protein differential expression in normal tissues from HIPED for GK Gene

This gene is overexpressed in Liver (20.6), Lung (7.6), and Kidney (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GK Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GK

SOURCE GeneReport for Unigene cluster for GK Gene:

Hs.1466

mRNA Expression by UniProt/SwissProt for GK Gene:

P32189-GLPK_HUMAN
Tissue specificity: Highly expressed in the liver, kidney and testis. Isoform 2 and isoform 3 are expressed specifically in testis and fetal liver, but not in the adult liver.

Evidence on tissue expression from TISSUES for GK Gene

  • Liver(4.5)
  • Blood(4.5)
  • Nervous system(4.4)
  • Kidney(2.4)
  • Intestine(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GK Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • outer ear
  • skull
Thorax:
  • chest wall
  • clavicle
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • adrenal gland
  • duodenum
  • intestine
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • ovary
  • pelvis
  • penis
  • testicle
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • lymph node
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with GK: view

No data available for Protein tissue co-expression partners for GK Gene

Orthologs for GK Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GK Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GK 29 30
  • 99.76 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gyk 30
  • 97 (a)
OneToOne
Gykl1 29 16
  • 82.7 (n)
Cow
(Bos Taurus)
Mammalia -- 30
  • 94 (a)
OneToMany
GK 29 30
  • 92.96 (n)
OneToMany
Dog
(Canis familiaris)
Mammalia GK 29 30
  • 93.8 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 90 (a)
ManyToMany
-- 30
  • 88 (a)
ManyToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 86 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Gykl1 29
  • 82.57 (n)
Chicken
(Gallus gallus)
Aves -- 30
  • 84 (a)
OneToMany
GK 29
  • 79.17 (n)
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 71 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gk 29
  • 76.51 (n)
Zebrafish
(Danio rerio)
Actinopterygii GK2 30
  • 78 (a)
OneToMany
zgc:172295 29
  • 72.35 (n)
Dr.15006 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2723 29
Fruit Fly
(Drosophila melanogaster)
Insecta Gyk 30 31
  • 52 (a)
ManyToMany
Gk 29 30
  • 51.24 (n)
ManyToMany
CG7995 31
  • 49 (a)
CG8298 30 31
  • 37 (a)
ManyToMany
CG1271 31
  • 25 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001563 29
  • 51.46 (n)
Worm
(Caenorhabditis elegans)
Secernentea R11F4.1 29 30 31
  • 54.14 (n)
OneToMany
C55B6.1 31
  • 24 (a)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E00595g 29
  • 53.35 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GUT1 29 30 32
  • 51.43 (n)
OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ACL069C 29
  • 50.19 (n)
Wheat
(Triticum aestivum)
Liliopsida Ta.9384 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.4742 30
  • 63 (a)
OneToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU06005 29
  • 52.02 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.11967 29
Species where no ortholog for GK was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for GK Gene

ENSEMBL:
Gene Tree for GK (if available)
TreeFam:
Gene Tree for GK (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GK: view image
Alliance of Genome Resources:
Additional Orthologs for GK

Paralogs for GK Gene

Paralogs for GK Gene

(3) SIMAP similar genes for GK Gene using alignment to 10 proteins:

  • GLPK_HUMAN
  • A6NP46_HUMAN
  • C9JLT1_HUMAN
  • F8WBI8_HUMAN
  • F8WC39_HUMAN
  • F8WDA9_HUMAN
  • F8WF44_HUMAN
  • H7BYD2_HUMAN
  • H7C2A0_HUMAN
  • H7C5F6_HUMAN

Pseudogenes.org Pseudogenes for GK Gene

genes like me logo Genes that share paralogs with GK: view

Variants for GK Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GK Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
1005401 Uncertain Significance: not provided 30,696,069(+) G/A
NM_001205019.2(GK):c.580G>A (p.Val194Ile)
MISSENSE
1029689 Uncertain Significance: Deficiency of glycerol kinase 30,665,538(+) C/T
NM_001205019.2(GK):c.106C>T (p.Leu36Phe)
MISSENSE
872759 Likely Pathogenic: not provided 30,696,040(+) A/G
NM_203391.3(GK):c.553-2A>G
SPLICE_ACCEPTOR
986037 Likely Pathogenic: Inborn genetic diseases 30,665,585(+) G/C
NM_001205019.2(GK):c.152+1G>C
SPLICE_DONOR
rs1057520647 Pathogenic: not provided 30,694,499(+) C/T
NM_000167.5(GK):c.514C>T (p.Arg172Ter)
NONSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GK Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for GK Gene

Variant ID Type Subtype PubMed ID
esv2740053 CNV deletion 23290073
esv3576804 CNV gain 25503493

Variation tolerance for GK Gene

Residual Variation Intolerance Score: 11.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.15; 3.48% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GK Gene

Human Gene Mutation Database (HGMD)
GK
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GK
Leiden Open Variation Database (LOVD)
GK

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GK Gene

Disorders for GK Gene

MalaCards: The human disease database

(17) MalaCards diseases for GK Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

UniProtKB/Swiss-Prot

GLPK_HUMAN
  • Glycerol kinase deficiency (GKD) [MIM:307030]: A metabolic disorder manifesting as 3 clinically distinct forms: infantile, juvenile, and adult. The infantile form is the most severe and is associated with severe developmental delay and adrenal insufficiency. Patients with the adult form have no symptoms and are often detected fortuitously. GKD results in hyperglycerolemia, a condition characterized by the accumulation of glycerol in the blood and urine. {ECO:0000269 PubMed:10736265, ECO:0000269 PubMed:8651297, ECO:0000269 PubMed:9719371}. Note=The disease is caused by variants affecting the gene represented in this entry.

Genatlas disease for GK Gene

hyperglycerolemia,pseudohypertriglyceridemia,sometimes presenting with hypoglycemia,ketoacidosis and recurrent convulsions in infancy

Additional Disease Information for GK

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with GK: view

Publications for GK Gene

  1. Mutations and phenotype in isolated glycerol kinase deficiency. (PMID: 8651297) Walker AP … Monaco AP (American journal of human genetics 1996) 3 4 22 72
  2. Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation. (PMID: 10851254) Sargent CA … Affara NA (Journal of medical genetics 2000) 3 4 22
  3. Glycerol as a correlate of impaired glucose tolerance: dissection of a complex system by use of a simple genetic trait. (PMID: 10736265) Gaudet D … Rioux JD (American journal of human genetics 2000) 3 4 22
  4. Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency. (PMID: 9719371) Sjarif DR … Poll-The BT (Journal of medical genetics 1998) 3 4 22
  5. The glycerol kinase gene family: structure of the Xp gene, and related intronless retroposons. (PMID: 7987308) Sargent CA … Affara NA (Human molecular genetics 1994) 2 3 4

Products for GK Gene

Sources for GK Gene