MT1A

Chr 16

metallothionein 1A

Also known as: MT-1A, MT-IA, MT1, MT1S, MTC

NCBI Gene: 4489 ENSG00000205362 UniProt: P04731

Metallothionein 1A encodes a small, cysteine-rich protein that binds heavy metals and functions as an antioxidant to protect against oxidative stress and heavy metal toxicity. The gene is not highly constrained against loss-of-function variants (pLI = 0.004, LOEUF = 1.9), and no Mendelian diseases have been definitively associated with MT1A mutations in humans. Mouse studies suggest metallothioneins may play roles in metal homeostasis, immune function, and metabolic regulation.

ResearchSummary from RefSeq, UniProt

This gene is a member of the metallothionein family of genes. Proteins encoded by this gene family are low in molecular weight, are cysteine-rich, lack aromatic residues, and bind divalent heavy metal ions. The conserved cysteine residues co-ordinate metal ions using mercaptide linkages. These proteins act as anti-oxidants, protect against hydroxyl free radicals, are important in homeostatic control of metal in the cell, and play a role in detoxification of heavy metals. Disruption of two metallothionein genes in mouse resulted in defects in protection against heavy metals, oxidative stress, immune reactions, carcinogens, and displayed obesity. [provided by RefSeq, Sep 2017]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.91

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)