Target intelligence / Profile preview

Methenyltetrahydrofolate synthetase domain-containing protein (MTHFSD)

Target
MTHFSD
Molecular classification
RNA-binding protein, Predicted enzyme (possesses a methenyltetrahydrofolate synthetase domain; but actual enzymatic activity not experimentally verified)
01

Overview

Methenyltetrahydrofolate synthetase domain-containing protein (MTHFSD) is a predicted RNA-binding protein with a folate-related domain, likely functioning in stress granule formation and RNA metabolism in neurons. Expression data show its presence in cytoplasm and embryonic tissues. Although its domain suggests possible roles in one-carbon metabolism, the actual enzymatic activity (such as folate processing) remains undemonstrated in published experiments. Recent translational profiling studies highlighted its misregulation in ALS (amyotrophic lateral sclerosis) motor neurons, suggesting involvement in neurodegenerative disease mechanisms. However, MTHFSD is not currently recognized as a validated therapeutic target, disease biomarker, or clinically actionable gene. This protein remains relatively poorly characterized, with limited experimental data regarding its precise molecular function, interactome, or clinical significance.

Other names
Methenyltetrahydrofolate synthase domain-containing proteinMTHFSDFLJ12998
02

Mechanism of action

Not applicable; no drugs or inhibitors are known to target this molecule

03

Biological functions

RNA binding; associated with stress granule formation in neuronsPredicted involvement in folate-dependent one-carbon metabolism (based on domain analysis)
04

Disease associations

Neurodegenerative disease: Abnormal regulation in amyotrophic lateral sclerosis (ALS); identified as a novel component of stress granules in ALSPossible rare genetic syndromes: VACTERL association, Microphthalmia syndromic 3, but data are preliminary

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