GSTM4: Glutathione S-Transferase Mu 4

A member of the mu class of glutathione S-transferases involved in detoxification and oxidative stress response.

Gene Information Card

Symbol GSTM4
Full Name Glutathione S-Transferase Mu 4
Gene Type Protein coding
Chromosomal Location 1p13.3
NCBI Gene ID 2948 ncbi.nlm.nih.gov/gene/2948
Ensembl ID ENSG00000134107
UniProt ID Q03013
OMIM ID 138380
HGNC ID 4634
Aliases GST4, GSTM4-4, GSTM4b

Description

GSTM4 (Glutathione S-Transferase Mu 4) is a protein-coding gene that belongs to the mu class of glutathione S-transferases (GSTs). These enzymes catalyze the conjugation of reduced glutathione to a wide variety of electrophilic compounds, playing a key role in cellular detoxification, protection against oxidative stress, and metabolism of xenobiotics. GSTM4 is expressed in multiple tissues and is involved in the metabolism of drugs, carcinogens, and environmental toxins.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cancer (various types) Altered GSTM4 expression may affect detoxification of carcinogens, influencing cancer risk and progression. COSMIC; literature
Asthma Polymorphisms in GSTM4 may modulate susceptibility to oxidative stress in airways. ClinVar; literature
Drug-induced liver injury Reduced GSTM4 activity may impair detoxification of hepatotoxic drugs. ClinVar; literature

Expression Profile

Tissue Expression
Tissue nTPM level
Liver 12.5 Medium
Kidney 8.3 Medium
Lung 6.1 Low
Heart 4.2 Low
Brain 2.8 Low
Cell Line Expression
Cell Line nTPM Notes
HepG2 15.0 Hepatocellular carcinoma cell line
A549 7.5 Lung adenocarcinoma cell line
HEK293 5.0 Embryonic kidney cell line
MCF7 3.2 Breast cancer cell line
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.313A>G Missense 0.01% (gnomAD) p.Thr105Ala; may alter enzyme activity
c.519C>T Nonsense <0.001% p.Arg173*; predicted loss of function
c.1A>G Start loss <0.001% p.Met1?; likely loss of function
Mutation functional classification

Loss of Function (LOF)

Nonsense and start-loss variants (e.g., c.519C>T, c.1A>G) are predicted to result in loss of enzyme function.

Gain of Function (GOF)

No gain-of-function mutations have been reported for GSTM4.

Dominant Negative (DN)

No dominant-negative mutations have been characterized for GSTM4.

Pathways

• Glutathione metabolism (KEGG: hsa00480)
• Metabolism of xenobiotics by cytochrome P450 (KEGG: hsa00980)
• Drug metabolism - cytochrome P450 (KEGG: hsa00982)

Protein Summary

The GSTM4 protein (UniProt Q03013) is a 218-amino acid cytosolic enzyme belonging to the mu class of glutathione S-transferases. It forms homodimers and catalyzes the conjugation of glutathione to electrophilic substrates, facilitating detoxification. The protein is expressed in liver, kidney, lung, and other tissues, and its activity can be modulated by genetic variants. GSTM4 is involved in cellular defense against oxidative stress and metabolism of drugs and carcinogens.

Related Products

Product name Cat.No. Species Gene ID
GSTM4 Knockout HEK293 Cell Line EDJ-KQ4808 Human 2948 Details Get a Quote
GSTM4 Knockout A-549 Cell Line EDJ-KQ27574 Human 2948 Details Get a Quote
GSTM4 Knockout HCT 116 Cell Line EDJ-KQ27575 Human 2948 Details Get a Quote
GSTM4 Knockout HeLa Cell Line EDJ-KQ27576 Human 2948 Details Get a Quote
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