ALDH18A1 (aldehyde dehydrogenase 18 family member A1)

2014-11-01  

Identity

HGNC
LOCATION
10q24.1
LOCUSID
ALIAS
ADCL3,ARCL3A,GSAS,P5CS,PYCS,SPG9,SPG9A,SPG9B
FUSION GENES

Other Information

Locus ID:

NCBI: 5832
MIM: 138250
HGNC: 9722
Ensembl: ENSG00000059573

Variants:

dbSNP: 5832
ClinVar: 5832
TCGA: ENSG00000059573
COSMIC: ALDH18A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000059573ENST00000371221P54886
ENSG00000059573ENST00000371224P54886

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100

Pathways

PathwaySourceExternal ID
Arginine and proline metabolismKEGGko00330
Arginine and proline metabolismKEGGhsa00330
Metabolic pathwaysKEGGhsa01100
Proline biosynthesis, glutamate => prolineKEGGhsa_M00015
Proline biosynthesis, glutamate => prolineKEGGM00015
Biosynthesis of amino acidsKEGGhsa01230
Biosynthesis of amino acidsKEGGko01230
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Amino acid synthesis and interconversion (transamination)REACTOMER-HSA-70614

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
208197782010MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer.21
184780382008A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
209469402011Association of variants within APOE, SORL1, RUNX1, BACE1 and ALDH18A1 with dementia in Alzheimer's disease in subjects with Down syndrome.17
209469402011Association of variants within APOE, SORL1, RUNX1, BACE1 and ALDH18A1 with dementia in Alzheimer's disease in subjects with Down syndrome.17
184015422008Human Delta1-pyrroline-5-carboxylate synthase: function and regulation.16
217395762011Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS).14
263208912015Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.14

Citation

Dessen P

ALDH18A1 (aldehyde dehydrogenase 18 family member A1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60238/aldh18a1