MT3

Chr 16

metallothionein 3

Also known as: GIF, GIFB, GRIF, ZnMT3

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. This gene family member displays tissue-specific expression, and contains a threonine insert near its N-terminus and a glutamate-rich hexapeptide insert near its C-terminus relative to the proteins encoded by other gene family members. It plays an important role in zinc and copper homeostasis, and is induced under hypoxic conditions. The encoded protein is a growth inhibitory factor, and reduced levels of the protein are observed in the brains of individuals with some metal-linked neurodegenerative disorders such as Alzheimer's disease. [provided by RefSeq, Sep 2017]

OMIMResearchGenerating clinical summary…
0
Active trials
49
Pubs (1 yr)
P/LP submissions
P/LP missense
1.54
LOEUF
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.54LOEUF
pLI 0.064
Z-score 0.87
OE 0.52 (0.211.54)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.66Z-score
OE missense 0.70 (0.510.97)
26 obs / 37.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.52 (0.211.54)
00.351.4
Missense OE?0.70 (0.510.97)
00.61.4
Synonymous OE?1.20
01.21.6
LoF obs/exp: 2 / 3.8Missense obs/exp: 26 / 37.4Syn Z: -0.59

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MT3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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