ALDH18A1 (aldehyde dehydrogenase 18 family member A1)

2014-11-01  

Identity

HGNC
ALDH18A1
LOCATION
10q24.1
LOCUSID
5832
ALIAS
ADCL3,ARCL3A,GSAS,P5CS,PYCS,SPG9,SPG9A,SPG9B
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
360670402023Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolism.5
371190152023Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families.0
360670402023Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolism.5
371190152023Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families.0
335736052021SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report.1
335736052021SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report.1
320171392020Δ(1) -Pyrroline-5-carboxylate synthetase deficiency: An emergent multifaceted urea cycle-related disorder.11
320759462020Inhibition of the ALDH18A1-MYCN positive feedback loop attenuates MYCN-amplified neuroblastoma growth.23
320171392020Δ(1) -Pyrroline-5-carboxylate synthetase deficiency: An emergent multifaceted urea cycle-related disorder.11
320759462020Inhibition of the ALDH18A1-MYCN positive feedback loop attenuates MYCN-amplified neuroblastoma growth.23
299152122018Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment.10
299152122018Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment.10
279895972017Comparative and evolutionary studies of ALDH18A1 genes and proteins.4
282286402017Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1.3
279895972017Comparative and evolutionary studies of ALDH18A1 genes and proteins.4

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-(aldehyde-dehydrogenase-18-family-member-a1)