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ALDH1L1

Synonyms
10-FTHFDH, 10-fTHF, FDH, FTHFD
External resources
Summary
The protein encoded by this gene catalyzes the conversion of 10-formyltetrahydrofolate, nicotinamide adenine dinucleotide phosphate (NADP+), and water to tetrahydrofolate, NADPH, and carbon dioxide. The encoded protein belongs to the aldehyde dehydrogenase family. Loss of function or expression of this gene is associated with decreased apoptosis, increased cell motility, and cancer progression. There is an antisense transcript that overlaps on the opposite strand with this gene locus. Alternative splicing results in multiple transcript variants.

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
7,235
Likely benign
2,099
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on ALDH1L1 gene.

Phenotype class
Patients in 3billion (%)

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