GLUD1 - glutamate dehydrogenase 1 Gene

Homo sapiens

Also known as GDH; GDH1; GLUD; hGDH1

Gene ID: 2746 | Gene type: protein coding

About GLUD1

Cytogenetic location: 10q23.2 Genomic coordinates (GRCh38): 10:87,050,202-87,094,843 (from NCBI)

This gene has 27 transcripts (splice variants), 280 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in liver (RPKM 169.1), kidney (RPKM 95.6) and 24 other tissues.

Summary

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]

GLUD1 Products(7)

mRNA	Protein	Name
NM_001318900.1	NP_001305829.1	glutamate dehydrogenase 1, mitochondrial isoform b
NM_001318901.1	NP_001305830.1	glutamate dehydrogenase 1, mitochondrial isoform c
NM_001318902.1	NP_001305831.1	glutamate dehydrogenase 1, mitochondrial isoform c
NM_001318904.2	NP_001305833.1	glutamate dehydrogenase 1, mitochondrial isoform c
NM_001318905.2	NP_001305834.1	glutamate dehydrogenase 1, mitochondrial isoform c
NM_001318906.2	NP_001305835.1	glutamate dehydrogenase 1, mitochondrial isoform c
NM_005271.5	NP_005262.1	glutamate dehydrogenase 1, mitochondrial isoform a precursor

GLUD1 Protein Structure

ELFV_dehydrog_N

ELFV_dehydrog

0
100
200
300
400
500
558 a.a.

Protein Preferred Names

Protein Names

glutamate dehydrogenase 1, mitochondrial

epididymis secretory sperm binding protein

Related Diseases

Diseases

Alias

Hyperinsulinemic Hypoglycemia, Familial, 6

Hyperinsulinism-Hyperammonemia Syndrome	HHF6
Familial Hyperinsulinemic Hypoglycemia 6	Hi/Ha Syndrome
Ha/Hi Syndrome	Hyperinsulinemic Hypoglycemia Familial 6
Hyperinsulinism Hyperammonemia Syndrome	Hhs

Hyperinsulinism

Hyperinsulinemia

Hyperinsulinemic Hypoglycemia

Nesidioblastosis	Islet Cell Hyperplasia
Persistent Hyperinsulinemia Hypoglycemia Of Infancy	Hyperinsulinemic Hypoglycaemia

Hypoglycemia

Hypoglycaemia	Low Blood Sugar
Hypoglycaemia Nos	Spontaneous Hypoglycaemia
Nondiabetic Hypoglycaemia	Hypoglycaemic Disorder Nos
Hypoglycaemic Syndrome

Olivopontocerebellar Atrophy

Thomas Syndrome	Olivopontocerebellar Atrophies
Dejerine-Thomas Syndrome	Thomas' Syndrome
Wadia-Swami Syndrome	Opca
Potter Sequence-Cleft Lip/Palate-Cardiopathy Syndrome	Spinocerebellar Ataxia Type 2

Canavan Disease

Aspartoacylase Deficiency	Aminoacylase 2 Deficiency
Spongy Degeneration Of Central Nervous System	Aspa Deficiency
Acy2 Deficiency	Canavan-Van Bogaert-Bertrand Disease
Mild Canavan Disease	Asp Deficiency
Spongy Degeneration Of The Central Nervous System	Severe Canavan Disease
Von Bogaert-Bertrand Disease	Canavan'S Disease
Spongy Degeneration Of The Brain	Juvenile Canavan Disease
Infantile Canavan Disease	Neonatal Canavan Disease
CAND	Disease, Canavan
Canavan Disease, Juvenile	Canavan Disease, Infantile
Canavan Disease, Neonatal

Sotos Syndrome

Cerebral Gigantism	SOTOS
Chromosome 5q35 Deletion Syndrome	Sotos Syndrome 1, Formerly
Sotos1, Formerly	Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development
Sotos Sequence	Sotos' Syndrome
Sotos1	Sotos Syndrome 1

Hyperinsulinemic Hypoglycemia, Familial, 7

HHF7	Exercise-Induced Hyperinsulinemic Hypoglycemia
Exercise-Induced Hyperinsulinism	Familial Hyperinsulinemic Hypoglycemia 7
Eihi	Hyperinsulinism Due To Monocarboxylate Transporter 1 Deficiency
Hyperinsulinism Due To Slc16a1 Deficiency	Hyperinsulinemic Hypoglycemia, Exercise-Induced
Exercise Induced Hyperinsulinemic Hypoglycemia	Hyperinsulinemic Hypoglycemia Exercise-Induced
Hyperinsulinemic Hypoglycemia Familial 7

Primary Cerebellar Degeneration

Spinocerebellar Degenerations	Cerebellar Degenerations, Primary
Spinocerebellar Degeneration

Maple Syrup Urine Disease

MSUD	Bckd Deficiency
Branched-Chain Ketoaciduria	Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency
Keto Acid Decarboxylase Deficiency	Maple Syrup Urine Disease, Type Ii
Branched Chain Ketoaciduria	Classic Maple Syrup Urine Disease
Intermittent Maple Syrup Urine Disease	Maple Syrup Urine Disease, Type Ia
Ketoacidaemia	Bckdh Deficiency
Branched-Chain 2-Ketoacid Dehydrogenase Deficiency	Thiamine-Responsive Maple Syrup Urine Disease
Intermediate Maple Syrup Urine Disease	Maple Syrup Urine Disease Type 1a
Maple Syrup Urine Disease Type 1b	Maple Syrup Urine Disease Type 2
Maple Syrup Urine Disease, Type Ib	Dihydrolipoamide Dehydrogenase Deficiency
Branched-Chain Ketoacid Dehydrogenase Deficiency	Maple Syrup Disease
Ketoacidemia	Classic Bckd Deficiency
Classic Msud	Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency
Classic Branched-Chain Ketoaciduria	Thiamine-Responsive Bckd Deficiency
Thiamine-Responsive Msud	Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency
Intermittent Bckd Deficiency	Intermittent Msud
Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency	Maple Syrup Urine Disease 1a
MSUD1A	Maple Syrup Urine Disease Type Ia
Msud Type Ia	Maple Syrup Urine Disease 1b
MSUD1B	Maple Syrup Urine Disease Type Ib
Msud Type Ib	Maple Syrup Urine Disease 2
MSUD2	Maple Syrup Urine Disease Type Ii
Msud Type Ii	Nadh Cytochrome B5 Reductase Deficiency
Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency	Ketonemia
Maple Syrup Urine Disease, Type 1b	Ketoacid Decarboxylase Deficiency
Oxoacid Decarboxylase Deficiency	Branched Chain Ketoacid Dehydrogenase Deficiency
Msud - [Maple-Syrup-Urine Disease]	Ketoaminoacidaemia
Bckd - [Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency]	Maple-Syrup-Urine Disorder
Maple-Syrup-Urine Syndrome

Hypoglycemia, Leucine-Induced

Leucine-Sensitive Hypoglycemia Of Infancy	Leucine-Induced Hypoglycemia
LIH	Hypoglycemia Of Infancy, Leucine-Sensitive
Familial Infantile Hypoglycemia Precipitated By Leucine	Hypoglycemia Leucine Induced
Hypoglycemia Leucine-Induced

Monocarboxylate Transporter 1 Deficiency

Ketoacidosis Due To Monocarboxylate Transporter-1 Deficiency	MCT1D
Ketosis

Endometritis

Immunodeficiency 24

Severe Combined Immunodeficiency Due To Ctps1 Deficiency	IMD24
Scid Due To Ctps1 Deficiency	Immunodeficiency, Type 24

Mixed Malaria

Malaria By More Than One Parasite

Malaria Fever By More Than One Parasite

Pancreatic Cancer

Pancreatic Carcinoma	Carcinoma Of Pancreas
Familial Pancreatic Carcinoma	Pancreatic Neoplasm
Pancreatic Carcinoma, Familial	Malignant Neoplasm Of Pancreas
Pancreatic Acinar Carcinoma	Pancreatic Tumor
Familial Pancreatic Cancer	Neoplasm Of The Pancreas
Cancer Of The Pancreas	Pancreatic Carcinoma, Somatic
Pancreatic Cancer, Somatic	Ca Body Of Pancreas
Ca Head Of Pancreas	Ca Tail Of Pancreas
Malignant Neoplasm Of Body Of Pancreas	Malignant Neoplasm Of Head Of Pancreas
Malignant Neoplasm Of Tail Of Pancreas	Pancreas Neoplasm
Exocrine Cancer	Exocrine Pancreas Carcinoma
Hereditary Pancreatic Cancer	Hereditary Pancreatic Carcinoma
PNCA	Pancreatic Cancer, Susceptibility To
Carcinoma Of Head Of Pancreas	Pancreatic Neoplasms
Pancreatic Tumors	Cancer, Pancreatic
Cancer Of Pancreas	Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

Multiple System Atrophy 1

Multiple System Atrophy	Shy-Drager Syndrome
Msa	MSA1
Multiple System Atrophy 1, Susceptibility To	Sporadic Olivopontocerebellar Atrophy
Multisystem Atrophy	Msa1, Susceptibility To
Multiple System Atrophy, Susceptibility To	Opca
Progressive Autonomic Failure With Multiple System Atrophy	Sds

Fetal Erythroblastosis

Erythroblastosis, Fetal	Ef - Erythroblastosis Foetalis
Erythroblastosis Fetalis	Haemolytic Disease Due To Rhesus Isoimmunisation
Rhesus Isoimmunisation Of The Newborn

Schizophrenia

SCZD	Schizophrenia With Or Without An Affective Disorder
Schizophrenia 12	Schizophrenia, Susceptibility To
Schizophrenia-1	Dementia Praecox
Schizophrenia 1

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

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

Related Agents

Clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Phase
HY-13653	(-)-Epigallocatechin Gallate	Inducer	99.87%	Phase 4
HY-150526	EGCG-4″-sulfate	Inducer	/	Phase 4

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-103096	R162	Inhibitor	99.98%	Unkown
HY-13653R	(-)-Epigallocatechin Gallate (Standard)	Inducer	98.05%	Unkown
HY-13653S	(+/-)-Epigallocatechin Gallate-13C3		/	Unkown
HY-RS05507	GLUD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	GLUD1	RGD	RGD:2708
Mus musculus	GLUD1	MGD	MGI:95753
Others	GLUD1	NCBI

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