This gene encodes glutamate dehydrogenase, which is a mitochondrial matrix enzyme that catalyzes the oxidative deamination of glutamate to alpha-ketoglutarate and ammonia. This enzyme has an important role in regulating amino acid-induced insulin secretion. It is allosterically activated by ADP and inhibited by GTP and ATP. Activating mutations in this gene are a common cause o... See more...

Aliases for GLUD1 Gene

Aliases for GLUD1 Gene

  • Glutamate Dehydrogenase 1 2 3 5
  • Glutamate Dehydrogenase 1, Mitochondrial 3 4
  • EC 1.4.1.3 4 52
  • GLUD 3 4
  • Epididymis Tissue Sperm Binding Protein Li 18mP 3
  • Epididymis Secretory Sperm Binding Protein 3
  • Glutamate Dehydrogenase (NAD(P)+) 3
  • EC 1.4.1 52
  • GDH 1 4
  • GDH1 3
  • GDH 3

External Ids for GLUD1 Gene

Previous HGNC Symbols for GLUD1 Gene

  • GLUD

Previous GeneCards Identifiers for GLUD1 Gene

  • GC10M087691
  • GC10M088031
  • GC10M088941
  • GC10M088474
  • GC10M088800
  • GC10M082663
  • GC10M088809

Summaries for GLUD1 Gene

Entrez Gene Summary for GLUD1 Gene

  • This gene encodes glutamate dehydrogenase, which is a mitochondrial matrix enzyme that catalyzes the oxidative deamination of glutamate to alpha-ketoglutarate and ammonia. This enzyme has an important role in regulating amino acid-induced insulin secretion. It is allosterically activated by ADP and inhibited by GTP and ATP. Activating mutations in this gene are a common cause of congenital hyperinsulinism. Alternative splicing of this gene results in multiple transcript variants. The related glutamate dehydrogenase 2 gene on the human X-chromosome originated from this gene via retrotransposition and encodes a soluble form of glutamate dehydrogenase. Related pseudogenes have been identified on chromosomes 10, 18 and X. [provided by RefSeq, Jan 2016]

GeneCards Summary for GLUD1 Gene

GLUD1 (Glutamate Dehydrogenase 1) is a Protein Coding gene. Diseases associated with GLUD1 include Hyperinsulinemic Hypoglycemia, Familial, 6 and Hyperinsulinism. Among its related pathways are Carbon metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include identical protein binding and oxidoreductase activity. An important paralog of this gene is GLUD2.

UniProtKB/Swiss-Prot Summary for GLUD1 Gene

  • Mitochondrial glutamate dehydrogenase that converts L-glutamate into alpha-ketoglutarate. Plays a key role in glutamine anaplerosis by producing alpha-ketoglutarate, an important intermediate in the tricarboxylic acid cycle. May be involved in learning and memory reactions by increasing the turnover of the excitatory neurotransmitter glutamate (By similarity).

Gene Wiki entry for GLUD1 Gene

Additional gene information for GLUD1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GLUD1 Gene

Genomics for GLUD1 Gene

GeneHancer (GH) Regulatory Elements for GLUD1 Gene

Promoters and enhancers for GLUD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GLUD1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GLUD1

Top Transcription factor binding sites by QIAGEN in the GLUD1 gene promoter:
  • Elk-1
  • ER-alpha
  • FOXJ2 (long isoform)
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1a
  • Pax-2
  • Pax-2a
  • ZIC2

Genomic Locations for GLUD1 Gene

Genomic Locations for GLUD1 Gene
chr10:87,050,202-87,095,019
(GRCh38/hg38)
Size:
44,818 bases
Orientation:
Minus strand
chr10:88,809,959-88,854,776
(GRCh37/hg19)
Size:
44,818 bases
Orientation:
Minus strand

Genomic View for GLUD1 Gene

Genes around GLUD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GLUD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GLUD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GLUD1 Gene

Proteins for GLUD1 Gene

  • Protein details for GLUD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P00367-DHE3_HUMAN
    Recommended name:
    Glutamate dehydrogenase 1, mitochondrial
    Protein Accession:
    P00367
    Secondary Accessions:
    • B3KV55
    • B4DGN5
    • Q5TBU3

    Protein attributes for GLUD1 Gene

    Size:
    558 amino acids
    Molecular mass:
    61398 Da
    Quaternary structure:
    • Homohexamer.

    Three dimensional structures from OCA and Proteopedia for GLUD1 Gene

    Alternative splice isoforms for GLUD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GLUD1 Gene

Selected DME Specific Peptides for GLUD1 Gene

P00367:
  • ARRHYSE
  • RTAAYVNAIEKVFKVY
  • GGVTVSYFEW
  • ACVTGKP
  • KAKIIAEGANGPTTP
  • WEVIEGYRAQHS
  • ELAKKGFIGPG
  • CDILIPAA
  • TGEREMSWIADTYA
  • TAMKYNLGLDLRTAAYVN
  • VPTAEFQD
  • LAYTMERSARQIM
  • AGPAALGSA
  • NEASYMS
  • MVEGFFDRGASIVEDKLV
  • QGFGNVG
  • DGSIWNPDGIDPKELED
  • EEQKRNRVR
  • ISQGGIHGRISATGRG
  • GASEKDIVHS
  • GSILEAD
  • DVPAPDM
  • ALASLMTYKCAVVDVPFGGAK
  • SATGRGVFHG
  • ANGPTTP
  • PCKGGIR
  • QGFGNVGLHSMRYLHRFGAKC

Post-translational modifications for GLUD1 Gene

  • ADP-ribosylated by SIRT4, leading to inactivate glutamate dehydrogenase activity (By similarity). Stoichiometry shows that ADP-ribosylation occurs in one subunit per catalytically active homohexamer.
  • Ubiquitination at Lys84 and Lys365
  • Modification sites at PhosphoSitePlus

Other Protein References for GLUD1 Gene

Domains & Families for GLUD1 Gene

Gene Families for GLUD1 Gene

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

Protein Domains for GLUD1 Gene

Suggested Antigen Peptide Sequences for GLUD1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ16138 fis, clone BRALZ2017531, highly similar to Glutamate dehydrogenase 1, mitochondrial (EC 1.4.1.3) (B3KV55_HUMAN)
  • cDNA FLJ55203, highly similar to Glutamate dehydrogenase 1, mitochondrial (EC 1.4.1.3) (B4DGN5_HUMAN)
  • Glutamate dehydrogenase 1, mitochondrial (DHE3_HUMAN)
  • Glutamate dehydrogenase 1, isoform CRA_d (E9KL48_HUMAN)
  • GLUD1 protein (Q14400_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P00367

UniProtKB/Swiss-Prot:

DHE3_HUMAN :
  • Belongs to the Glu/Leu/Phe/Val dehydrogenases family.
Family:
  • Belongs to the Glu/Leu/Phe/Val dehydrogenases family.
genes like me logo Genes that share domains with GLUD1: view

Function for GLUD1 Gene

Molecular function for GLUD1 Gene

UniProtKB/Swiss-Prot Function:
Mitochondrial glutamate dehydrogenase that converts L-glutamate into alpha-ketoglutarate. Plays a key role in glutamine anaplerosis by producing alpha-ketoglutarate, an important intermediate in the tricarboxylic acid cycle. May be involved in learning and memory reactions by increasing the turnover of the excitatory neurotransmitter glutamate (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + L-glutamate + NAD(+) = 2-oxoglutarate + H(+) + NADH + NH4(+); Xref=Rhea:RHEA:15133, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16810, ChEBI:CHEBI:28938, ChEBI:CHEBI:29985, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.4.1.3; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + L-glutamate + NADP(+) = 2-oxoglutarate + H(+) + NADPH + NH4(+); Xref=Rhea:RHEA:11612, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16810, ChEBI:CHEBI:28938, ChEBI:CHEBI:29985, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.4.1.3; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Subject to allosteric regulation. Activated by ADP. Inhibited by GTP and ATP. ADP can occupy the NADH binding site and activate the enzyme.
GENATLAS Biochemistry:
glutamate dehydrogenase 1,key enzyme linking glutamate metabolism with the Krebs cycle and catalyzing the conversion of alpha-ketoglutarate controlled by allosteric inhibition by GTP

Enzyme Numbers (IUBMB) for GLUD1 Gene

Phenotypes From GWAS Catalog for GLUD1 Gene

Gene Ontology (GO) - Molecular Function for GLUD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004352 glutamate dehydrogenase (NAD+) activity IDA 11903050
GO:0004353 glutamate dehydrogenase [NAD(P)+] activity IDA 11032875
GO:0005515 protein binding IPI 16959573
GO:0005524 ATP binding IEA --
GO:0005525 GTP binding IDA 11032875
genes like me logo Genes that share ontologies with GLUD1: view
genes like me logo Genes that share phenotypes with GLUD1: view

Human Phenotype Ontology for GLUD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GLUD1

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for GLUD1 Gene

Localization for GLUD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GLUD1 Gene

Mitochondrion matrix.

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 GLUD1 gene
Compartment Confidence
mitochondrion 5
plasma membrane 2
extracellular 2
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GLUD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 18688271
GO:0005739 mitochondrion IEA,IDA 15578726
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with GLUD1: view

Pathways & Interactions for GLUD1 Gene

genes like me logo Genes that share pathways with GLUD1: view

SIGNOR curated interactions for GLUD1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for GLUD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006520 cellular amino acid metabolic process IEA --
GO:0006537 glutamate biosynthetic process IDA 11032875
GO:0006538 glutamate catabolic process IDA 6121377
GO:0006541 glutamine metabolic process ISS --
GO:0008652 cellular amino acid biosynthetic process TAS --
genes like me logo Genes that share ontologies with GLUD1: view

Drugs & Compounds for GLUD1 Gene

(66) Drugs for GLUD1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Hexachlorophene Approved, Withdrawn Pharma Target, inhibitor 3
Glutamic acid Approved Nutra Full agonist, Agonist, Target 289
Aluminum chloride Approved, Investigational Pharma Target, inactivator 0
Ammonia Approved Pharma 0

(55) Additional Compounds for GLUD1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
genes like me logo Genes that share compounds with GLUD1: view

Transcripts for GLUD1 Gene

mRNA/cDNA for GLUD1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GLUD1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GLUD1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10
SP1: -
SP2:
SP3:
SP4: - - - -
SP5: -

Relevant External Links for GLUD1 Gene

GeneLoc Exon Structure for
GLUD1

Expression for GLUD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GLUD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GLUD1 Gene

This gene is overexpressed in Liver (x4.4).

Protein differential expression in normal tissues from HIPED for GLUD1 Gene

This gene is overexpressed in Liver, secretome (22.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GLUD1 Gene



Protein tissue co-expression partners for GLUD1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GLUD1

SOURCE GeneReport for Unigene cluster for GLUD1 Gene:

Hs.500409

Evidence on tissue expression from TISSUES for GLUD1 Gene

  • Nervous system(4.9)
  • Liver(4.7)
  • Eye(4.3)
  • Intestine(4.3)
  • Kidney(3.4)
  • Lung(2.4)
  • Pancreas(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GLUD1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
Abdomen:
  • adrenal gland
  • kidney
  • liver
  • pancreas
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with GLUD1: view

No data available for mRNA Expression by UniProt/SwissProt for GLUD1 Gene

Orthologs for GLUD1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GLUD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GLUD2 31
  • 100 (a)
OneToOne
GLUD1 30
  • 99.88 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 97 (a)
ManyToMany
-- 31
  • 89 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia GLUD1 30
  • 92.49 (n)
-- 31
  • 91 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Glud1 17 31 30
  • 92.35 (n)
cow
(Bos Taurus)
Mammalia GLUD1 31 30
  • 91.1 (n)
OneToMany
rat
(Rattus norvegicus)
Mammalia Glud1 30
  • 90.74 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 83 (a)
ManyToMany
-- 31
  • 63 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 31
  • 91 (a)
OneToMany
GLUD1 30
  • 84.8 (n)
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 87 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia glud1 30
  • 79.69 (n)
Str.4482 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.11458 30
zebrafish
(Danio rerio)
Actinopterygii glud1a 31 30
  • 75.61 (n)
OneToMany
wufb16e02 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9944 30
fruit fly
(Drosophila melanogaster)
Insecta Gdh 31 32 30
  • 66.48 (n)
OneToMany
CG4434 32
  • 46 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004362 30
  • 66.26 (n)
worm
(Caenorhabditis elegans)
Secernentea gdh-1 31 30
  • 62.31 (n)
OneToMany
ZK829.4 32
  • 62 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GDH3 33 31
  • 25 (a)
GDH1 31
  • 25 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons GDH2 30
  • 51.72 (n)
rice
(Oryza sativa)
Liliopsida Os02g0650900 30
  • 52.62 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10003 31
  • 66 (a)
OneToMany
Species where no ortholog for GLUD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GLUD1 Gene

ENSEMBL:
Gene Tree for GLUD1 (if available)
TreeFam:
Gene Tree for GLUD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GLUD1: view image

Paralogs for GLUD1 Gene

Paralogs for GLUD1 Gene

(1) SIMAP similar genes for GLUD1 Gene using alignment to 6 proteins:

  • DHE3_HUMAN
  • B3KV55_HUMAN
  • B4DGN5_HUMAN
  • E9KL48_HUMAN
  • Q14400_HUMAN
  • Q9UQV0_HUMAN

Pseudogenes.org Pseudogenes for GLUD1 Gene

genes like me logo Genes that share paralogs with GLUD1: view

Variants for GLUD1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GLUD1 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
585937 Likely Benign: not provided 87,094,575(-) G/A SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
585938 Benign: not provided 87,074,612(-) A/G SYNONYMOUS_VARIANT
650460 Uncertain Significance: Hyperinsulinism-hyperammonemia syndrome 87,060,704(-) G/A MISSENSE_VARIANT
656107 Uncertain Significance: Hyperinsulinism-hyperammonemia syndrome 87,060,753(-) T/C MISSENSE_VARIANT
682380 Likely Benign: not provided 87,094,793(-) G/C FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for GLUD1 Gene

Structural Variations from Database of Genomic Variants (DGV) for GLUD1 Gene

Variant ID Type Subtype PubMed ID
esv2673849 CNV deletion 23128226
esv2759774 CNV gain+loss 17122850
esv27843 CNV loss 19812545
esv3624103 CNV loss 21293372
nsv1141879 OTHER inversion 24896259
nsv428236 CNV loss 18775914
nsv825493 CNV gain 20364138
nsv831939 CNV gain 17160897
nsv8714 CNV loss 18304495
nsv948112 CNV duplication 23825009
nsv948113 CNV duplication 23825009

Variation tolerance for GLUD1 Gene

Residual Variation Intolerance Score: 9.69% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.81; 34.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GLUD1 Gene

Human Gene Mutation Database (HGMD)
GLUD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GLUD1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GLUD1 Gene

Disorders for GLUD1 Gene

MalaCards: The human disease database

(20) MalaCards diseases for GLUD1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hyperinsulinemic hypoglycemia, familial, 6
  • hhs
hyperinsulinism
  • hyperinsulinemia
hyperinsulinemic hypoglycemia
  • nesidioblastosis
hypoglycemia
  • hypoglycaemia
lacrimal gland adenoid cystic carcinoma
  • adenoid cystic carcinoma of lacrimal gland
- elite association - COSMIC cancer census association via MalaCards
Search GLUD1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DHE3_HUMAN
  • Familial hyperinsulinemic hypoglycemia 6 (HHF6) [MIM:606762]: Familial hyperinsulinemic hypoglycemia [MIM:256450], also referred to as congenital hyperinsulinism, nesidioblastosis, or persistent hyperinsulinemic hypoglycemia of infancy (PPHI), is the most common cause of persistent hypoglycemia in infancy and is due to defective negative feedback regulation of insulin secretion by low glucose levels. In HHF6 elevated oxidation rate of glutamate to alpha-ketoglutarate stimulates insulin secretion in the pancreatic beta cells, while they impair detoxification of ammonium in the liver. {ECO:0000269 PubMed:10636977, ECO:0000269 PubMed:11214910, ECO:0000269 PubMed:11297618, ECO:0000269 PubMed:9571255}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for GLUD1 Gene

hyperinsulinism-hyperammonemia syndrome characterized by hyperinsulinemic hypoglycemia with concomittant hyperammonemia

Additional Disease Information for GLUD1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GLUD1: view

Publications for GLUD1 Gene

  1. Structural studies on ADP activation of mammalian glutamate dehydrogenase and the evolution of regulation. (PMID: 12653548) Banerjee S … Smith TJ (Biochemistry 2003) 3 4 23 54
  2. Expression, purification and characterization of human glutamate dehydrogenase (GDH) allosteric regulatory mutations. (PMID: 11903050) Fang J … Stanley CA (The Biochemical journal 2002) 3 4 23 54
  3. Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase. (PMID: 11297618) MacMullen C … Hyperinsulinism/hyperammonemia Contributing Investigators (The Journal of clinical endocrinology and metabolism 2001) 3 4 23 54
  4. Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome. (PMID: 11214910) Santer R … Schaub J (Human genetics 2001) 3 4 23 54
  5. Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. (PMID: 9571255) Stanley CA … Poncz M (The New England journal of medicine 1998) 3 4 23 54

Products for GLUD1 Gene

Sources for GLUD1 Gene