TMT1A

Chr 12

thiol methyltransferase 1A

Also known as: AAM-B, AAMB, METTL7A

NCBI Gene: 25840ENSG00000185432UniProt: Q9H8H3OMIM: 618338

Enables mRNA m(6)A methyltransferase activity and thiol S-methyltransferase activity. Involved in lncRNA processing; odontogenesis; and osteoblast differentiation. Located in endoplasmic reticulum and lipid droplet. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.38
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.38LOEUF
pLI 0.000
Z-score 0.81
OE 0.70 (0.38–1.38)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.05Z-score
OE missense 1.01 (0.88–1.17)
134 obs / 132.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.70 (0.38–1.38)
0≤0.351.4
Missense OE?1.01 (0.88–1.17)
0≤0.61.4
Synonymous OE?1.07
0≤1.21.6
LoF obs/exp: 6 / 8.5Missense obs/exp: 134 / 132.4Syn Z: -0.39

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TMT1A · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients