ALDH1L2 Gene Summary [Human]

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.[provided by RefSeq, Oct 2010]

Details

Type
Retained Intron
Official Symbol
ALDH1L2
Official Name
aldehyde dehydrogenase 1 family member L2 [Source:HGNC Symbol;Acc:HGNC:26777]
Ensembl ID
ENSG00000136010
Bio databases IDs NCBI: 160428 Ensembl: ENSG00000136010
Aliases aldehyde dehydrogenase 1 family member L2, mitochondrial 10-formyltetrahydrofolate dehydrogenase
Synonyms aldehyde dehydrogenase 1 family member L2, aldehyde dehydrogenase 1 family, member L2, D330038I09Rik, mtFDH, RGD1309458
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ALDH1L2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Aldehyde dehydrogenase family
  • betaine-aldehyde dehydrogenase
  • Carboxy-terminal domain of Formyltransferase and similar domains
  • methionyl-tRNA formyltransferase
  • formyltetrahydrofolate dehydrogenase
  • Formyl transferase, C-terminal domain
  • Formyltransferase, catalytic core domain
  • enzyme
  • protein binding
  • delta-1-pyrroline-5-carboxylate dehydrogenase, group 2, putative
  • delta-1-pyrroline-5-carboxylate dehydrogenase (PutA C-terminal domain)
  • NAD(P)+-dependent aldehyde dehydrogenase superfamily

Pathways

Biological processes and signaling networks where the ALDH1L2 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • benign rolandic epilepsy
  • Sengers syndrome
  • COVID-19
regulated by
regulates
  • fatty acid
  • 10-formyltetrahydrofolic acid
  • NADPH
  • folic acid

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • Mitochondria
  • mitochondrial matrix
  • nucleoplasm

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human ALDH1L2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • fatty acid beta-oxidation
  • folic acid metabolic process
  • 10-formyltetrahydrofolate catabolic process
  • NADPH regeneration
  • biosynthetic process
  • one-carbon metabolic process

Cellular Component

Where in the cell the gene product is active
  • extracellular vesicular exosome
  • mitochondrial matrix
  • mitochondrion
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • aldehyde dehydrogenase (NAD) activity
  • protein binding
  • formyltetrahydrofolate dehydrogenase activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.