ALDH1L2 (aldehyde dehydrogenase 1 family member L2)

2014-11-01  

Identity

HGNC
LOCATION
12q23.3
LOCUSID
ALIAS
mtFDH
FUSION GENES

Other Information

Locus ID:

NCBI: 160428
MIM: 613584
HGNC: 26777
Ensembl: ENSG00000136010

Variants:

dbSNP: 160428
ClinVar: 160428
TCGA: ENSG00000136010
COSMIC: ALDH1L2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136010ENST00000258494Q3SY69
ENSG00000136010ENST00000548418H0YHN9
ENSG00000136010ENST00000552270Q3SY69
ENSG00000136010ENST00000652515A0A494C1M4

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100

Pathways

PathwaySourceExternal ID
One carbon pool by folateKEGGko00670
One carbon pool by folateKEGGhsa00670
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Metabolism of folate and pterinesREACTOMER-HSA-196757

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
381933342024Further delineation of the phenotypic and metabolomic profile of ALDH1L2-related neurodevelopmental disorder.0
381933342024Further delineation of the phenotypic and metabolomic profile of ALDH1L2-related neurodevelopmental disorder.0
372452102023ALDH1L2 regulation of formate, formyl-methionine, and ROS controls cancer cell migration and metastasis.9
372452102023ALDH1L2 regulation of formate, formyl-methionine, and ROS controls cancer cell migration and metastasis.9
212384362011Enzymatic properties of ALDH1L2, a mitochondrial 10-formyltetrahydrofolate dehydrogenase.22
212384362011Enzymatic properties of ALDH1L2, a mitochondrial 10-formyltetrahydrofolate dehydrogenase.22
199332752010Acyl carrier protein-specific 4'-phosphopantetheinyl transferase activates 10-formyltetrahydrofolate dehydrogenase.14
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
204983742010ALDH1L2 is the mitochondrial homolog of 10-formyltetrahydrofolate dehydrogenase.53
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
199332752010Acyl carrier protein-specific 4'-phosphopantetheinyl transferase activates 10-formyltetrahydrofolate dehydrogenase.14
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
204983742010ALDH1L2 is the mitochondrial homolog of 10-formyltetrahydrofolate dehydrogenase.53
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20

Citation

Dessen P

ALDH1L2 (aldehyde dehydrogenase 1 family member L2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60241/aldh1l2-(aldehyde-dehydrogenase-1-family-member-l2)