ALDH1L2 - aldehyde dehydrogenase 1 family member L2 Gene

Also Known as mtFDH

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 160428

About ALDH1L2

Cytogenetic location: 12q23.3 Genomic coordinates (GRCh38): 12:105,019,790-105,084,458 (from NCBI)

This gene has 7 transcripts (splice variants), 211 orthologues and 17 paralogues. Ubiquitous expression in pancreas (RPKM 5.6), salivary gland (RPKM 2.9) and 22 other tissues.

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.[provided by RefSeq, Oct 2010]

ALDH1L2 Products (1)

mRNA	Protein	Name
NM_001034173.4	NP_001029345.2	mitochondrial 10-formyltetrahydrofolate dehydrogenase precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables formyltetrahydrofolate dehydrogenase activity	IDA IDA: Inferred from direct assay	21238436	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in 10-formyltetrahydrofolate catabolic process	IDA IDA: Inferred from direct assay	21238436	GOA
involved in NADPH regeneration	IDA IDA: Inferred from direct assay	21238436	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrion	IDA IDA: Inferred from direct assay	20498374	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
mitochondrial 10-formyltetrahydrofolate dehydrogenase	10-formyltetrahydrofolate dehydrogenase ALDH1L2

Related Diseases

Diseases	Alias
Sjogren-Larsson Syndrome	Sjögren-Larsson Syndrome SLS Faldh Deficiency Fatty Aldehyde Dehydrogenase Deficiency Fatty Acid Alcohol Oxidoreductase Deficiency Ichthyosis, Spastic Neurologic Disorder, And Oligophrenia Sjogren Larsson Syndrome Fatty Alcohol:Nad+ Oxidoreductase Deficiency Sjogren-Larsson'S Syndrome Fadh Deficiency Fao Deficiency Congenital Icthyosis Mental Retardation Spasticity Syndrome Ichthyosis Oligophrenia Syndrome Sjoegren-Larsson Syndrome
Succinic Semialdehyde Dehydrogenase Deficiency	4-Hydroxybutyric Aciduria Ssadh Deficiency Gamma-Hydroxybutyric Aciduria Gaba Metabolic Defect SSADHD Ssadh Succinate-Semialdehyde Dehydrogenase Deficiency Gamma-Hydroxybutyricaciduria 4-Hydroxybutyricaciduria Gamma-Hydroxybutyric Acidemia Succinate Semialdehyde Dehydrogenase Deficiency

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (12)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-W011094	Win 18446	Inhibitor	98.94%	Unkown
HY-125085	ALDH3A1-IN-3	Inhibitor	99.43%	Unkown
HY-122912	ALDH1A inhibitor 673A		99.15%	Unkown
HY-135841	CM010	Inhibitor	99.70%	Unkown
HY-139031	ALDH1A2-IN-1	Inhibitor	98.05%	Unkown
HY-157567	FSI-TN42	Inhibitor	98.07%	Unkown
HY-139032	CM121	Inhibitor	99.95%	Unkown
HY-158026	ALDH1A1-IN-5	Inhibitor	/	Unkown
HY-RS00563	ALDH1A2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS00567	ALDH1L2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17028	Aldh1a2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23472	Aldh1a2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	ALDH1L2	VGNC	VGNC:83487
Mus musculus	ALDH1L2	MGD	MGI:2444680
Canis familiaris	ALDH1L2	VGNC	VGNC:37785
Macaca mulatta	ALDH1L2	VGNC	VGNC:81356
Bos taurus	ALDH1L2	VGNC	VGNC:25812
Rattus norvegicus	ALDH1L2	RGD	RGD:1309458
Others	ALDH1L2	NCBI