1. Gene
  2. GCLM - glutamate-cysteine ligase modifier subunit Gene

GCLM - glutamate-cysteine ligase modifier subunit Gene

Homo sapiens

Also known as GLCLR

Gene ID: 2730 | Gene type: protein coding

About GCLM

Cytogenetic location: 1p22.1 Genomic coordinates (GRCh38): 1:93,885,199-93,909,430 (from NCBI)

This gene has 4 transcripts (splice variants), 204 orthologues and is associated with 1 phenotype. Ubiquitous expression in liver (RPKM 13.0), thyroid (RPKM 9.9) 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. Gamma glutamylcysteine synthetase deficiency has been implicated in some forms of hemolytic anemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]

GCLM Products(2)

mRNA Protein Name
NM_001308253.2 NP_001295182.1 glutamate--cysteine ligase regulatory subunit isoform 2
NM_002061.4 NP_002052.1 glutamate--cysteine ligase regulatory subunit isoform 1

GCLM Protein Structure

Aldo_ket_red

Aldo_ket_red: Aldo/keto reductase family (76 - 193)

  • 0
  • 100
  • 200
  • 274 a.a.
Protein Preferred Names Protein Names

glutamate--cysteine ligase regulatory subunit

GCS light chain

Related Diseases

Diseases Alias
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

Parkinson Disease 4, Autosomal Dominant

Autosomal Dominant Parkinson Disease 4

PARK4

Parkinson Disease 4, Autosomal Dominant Lewy Body

Parkinson Disease 4

Parkinson'S Disease 4

Autosomal Dominant Lewy Body Parkinson Disease 4

Autosomal Dominant Parkinson'S Disease 4

Parkinson Disease 4 Autosomal Dominant Lewy Body

Parkinson Disease Autosomal Dominant 4

Parkinson Disease Familial Type 4

Parkinson Disease, Type 4

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

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

Orthologs Information

Species Symbol Source ID
Canis familiaris GCLM VGNC VGNC:41148
Rattus norvegicus GCLM RGD RGD:619871
Bos taurus GCLM VGNC VGNC:29290
Felis catus GCLM VGNC VGNC:80218
Macaca mulatta GCLM VGNC VGNC:72924
Mus musculus GCLM MGD MGI:104995