Home > Gene Browser > ALDH1L2

ALDH1L2

Synonyms
mtFDH
External resources
Summary
This gene encodes a member of both the aldehyde dehydrogenase superfamily and the formyl transferase superfamily. This member is the mitochondrial form of 10-formyltetrahydrofolate dehydrogenase (FDH), which converts 10-formyltetrahydrofolate to tetrahydrofolate and CO2 in an NADP(+)-dependent reaction, and plays an essential role in the distribution of one-carbon groups between the cytosolic and mitochondrial compartments of the cell. Alternatively spliced transcript variants have been found for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
16,970
Likely benign
7,012
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on ALDH1L2 gene.

Phenotype class
Patients in 3billion (%)

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