ALDH1L2 - aldehyde dehydrogenase 1 family member L2 Gene

Homo sapiens

Also known as mtFDH

Gene ID: 160428 | Gene type: protein coding

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

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

Bioactive Molecules (9)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-W011094	Win 18446	Inhibitor	98.57%	Unkown
HY-135841	CM10	Inhibitor	98.07%	Unkown
HY-157567	FSI-TN42	Inhibitor	98.05%	Unkown
HY-139031	ALDH1A2-IN-1	Inhibitor	98.80%	Unkown
HY-139032	CM121	Inhibitor	/	Unkown
HY-158026	ALDH1A1-IN-5	Inhibitor	/	Unkown
HY-RS00563	ALDH1A2 Human Pre-designed siRNA Set A		/	Unkown
HY-RS00567	ALDH1L2 Human Pre-designed siRNA Set A		/	Unkown
HY-122912	ALDH1A inhibitor 673A		/	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

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