GCLC - glutamate-cysteine ligase catalytic subunit Gene

Homo sapiens

Also known as GCL; GCS; GLCL; GLCLC

Gene ID: 2729 | Gene type: protein coding

About GCLC

Cytogenetic location: 6p12.1 Genomic coordinates (GRCh38): 6:53,497,341-53,545,101 (from NCBI)

This gene has 14 transcripts (splice variants), 219 orthologues and is associated with 4 phenotypes. Ubiquitous expression in liver (RPKM 39.8), urinary bladder (RPKM 19.1) and 24 other tissues.

Summary

Glutamate-cysteine ligase, also known as gamma-glutamylcysteine synthetase is the first rate-limiting Enzyme of glutathione synthesis. The Enzyme consists of two subunits, a heavy catalytic subunit and a LIGHT regulatory subunit. This locus encodes the catalytic subunit, while the regulatory subunit is derived from a different gene located on chromosome 1p22-p21. Mutations at this locus have been associated with hemolytic anemia due to deficiency of gamma-glutamylcysteine synthetase and susceptibility to myocardial infarction.[provided by RefSeq, Oct 2010]

GCLC Products(2)

mRNA	Protein	Name
NM_001197115.2	NP_001184044.1	glutamate--cysteine ligase catalytic subunit isoform b
NM_001498.4	NP_001489.1	glutamate--cysteine ligase catalytic subunit isoform a

GCLC Protein Structure

GCS

0
100
200
300
400
500
600
637 a.a.

Protein Preferred Names

Protein Names

glutamate--cysteine ligase catalytic subunit

GCS heavy chain

Related Diseases

Diseases

Alias

Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To

Hemolytic Anemia Due To Gamma-Glutamylcysteine Synthetase Deficiency	HAGGSD
Anemia, Hemolytic, Due To Gamma-Glutamylcysteine Synthetase Deficiency	Glutamate-Cysteine Ligase Deficiency

Glutamate-Cysteine Ligase Deficiency

Gamma-Glutamylcysteine Synthetase Deficiency	Hemolytic Anemia Due To Gamma-Glutamylcysteine Synthetase Deficiency
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To

Myocardial Infarction

Heart Attack	Myocardial Infarction, Susceptibility To
Myocardial Infarction 1	Myocardial Infarction, Protection Against
Myocardial Infarction, Decreased Susceptibility To	Myocardial Infarction, Decreased
Myocardial Infarct	MCI1
Premature Myocardial Infarction	Myocardial Infarction, Susceptibility To, Type 1

Hemolytic Anemia

Anemia, Hemolytic	Anemia Hemolytic
Anaemia Due To Other Disorders Of Glutathione Metabolism	Chronic Non Spherocytic Anaemia
G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia	Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency
Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia	Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia
Favism Anaemia	Haemolytic Anaemia Due Tog6pd Deficiency
Favism	Pentose Phosphate Pathway Disorder Anaemia
Anaemia Due To Pentose Phosphate Pathway Defect

Cystic Fibrosis

Mucoviscidosis	CF
Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis	Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis
Cystic Fibrosis Lung Disease, Modifier Of	Cystic Fibrosis Of Pancreas
Fibrocystic Disease Of Pancreas	Cf - [Cystic Fibrosis]
Cystic Fibrosis Nos	Fibrocystic Disease
Fibrocystic Disease Of The Pancreas	Mucoviscidosis Of Pancreas
Nonproliferative Fibrocystic Disease	Pancreatic Cystic Fibrosis

Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy

Autosomal Dominant Adult-Onset Proximal Sma	Autosomal Dominant Late-Onset Spinal Muscular Atrophy, Finkel Type
Finkel Disease	Smafk
Adult-Onset Proximal Spinal Muscular Atrophy, Autosomal Dominant	Autosomal Dominant Adult Proximal Spinal Muscular Atrophy
Finkel Late-Adult Type Sma

Lung Disease

Lung Diseases	Disorder Of Lung
Abnormality Of The Lung

Ovarian Cancer

Ovarian Carcinoma	Ovarian Neoplasm
Malignant Tumour Of Ovary	Cancer Of The Ovary
Epithelial Ovarian Cancer	Neoplasm Of Ovary
Ovarian Neoplasms	Ovarian Cancers
Malignant Neoplasm Of Ovary	Primary Malignant Neoplasm Of Ovary
Ovarian Cancer, Somatic	Malignant Ovarian Tumor
Ovary Neoplasm	Primary Ovarian Cancer
Tumor Of The Ovary	Malignant Neoplasm Of The Ovary
Malignant Tumor Of The Ovary	Ovarian Malignant Tumor
OC	Ovarian Carcinomas
Cancer, Ovarian	Cancer Of Ovary
Ovary Cancer	Ca Ovary

Co-Trimoxazole Allergy

Bactrim Allergy	Cotrimoxazol Allergy
Tmp/Smx Allergy	Trimethoprim/Sulfamethoxazole Allergy

Intravascular Fasciitis

Intravascular Pseudosarcomatous Fasciitis

Myopathy

Muscular Diseases

Myopathies

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

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-147517	Keap1-Nrf2-IN-9	Inhibitor	/	Unkown
HY-RS05333	GCLC Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	GCLC	VGNC	VGNC:72923
Canis familiaris	GCLC	VGNC	VGNC:41147
Mus musculus	GCLC	MGD	MGI:104990
Rattus norvegicus	GCLC	RGD	RGD:619868
Bos taurus	GCLC	VGNC	VGNC:29289
Felis catus	GCLC	VGNC	VGNC:62494

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