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ALDH18A1

ALDH18A1

Protein-coding gene in the species Homo sapiens

synthetase (P5CS) is an enzyme that in humans is encoded by the ALDH18A1 gene. This gene is a member of the aldehyde dehydrogenase family and encodes

ALDH18A1

Cutis laxa

Skin which is abnormally inelastic and hangs loosely

related neurocutaneous syndrome may be caused by mutations in the gene ALDH18A1 (P5CS). Cutis laxa may also be seen in association with inherited connective

Cutis laxa

Cutis_laxa

Hereditary spastic paraplegia

Group of genetic disorders affecting motor neurons controlling the lower limbs

601162 ALDH18A1 10q24.1 Autosomal dominant Teenage Cataracts with motor neuronopathy, short stature and skeletal abnormalities SPG9B 616586 ALDH18A1 10q24

Hereditary spastic paraplegia

Hereditary_spastic_paraplegia

Bruno Reversade

American geneticist (born 1978)

Microcephaly 6 616212 2015 DCPS Recessive Al-Raqad syndrome 616459 2015 ALDH18A1 Dominant Dominant Cutis laxa type 3 616603 2016 NLRP1 Dominant Multiple

Bruno Reversade

Bruno_Reversade

1-Pyrroline-5-carboxylic acid

Chemical compound

1-pyrroline-5-carboxylate synthase (P5CS). The human P5CS is encoded by the ALDH18A1 gene. The enzyme pyrroline-5-carboxylate reductase converts L-P5C into

1-Pyrroline-5-carboxylic acid

1-Pyrroline-5-carboxylic_acid

Aldehyde dehydrogenase

Group of enzymes

ALDH3B2 ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDH8A1, ALDH9A1, ALDH16A1, ALDH18A1 Alcohol dehydrogenase Disulfiram-like drug PDB: 1o02; Perez-Miller SJ

Aldehyde dehydrogenase

Aldehyde_dehydrogenase

FASTKD3

Protein-coding gene in the species Homo sapiens

GLUD1, HIBADH, CPS1); Amino acid biosynthesis proteins (PYCR1, PYCR2, ALDH18A1, SHMT2, GLS); TCA cycle proteins (IDH3A, IDH2, SUCLG2, DLST); Respiratory

FASTKD3

Spontaneous coronary artery dissection

Uncommon cause of heart attacks mostly affecting younger, healthy women

cell contractility, and cellular metabolism. Variants in genes including ALDH18A1, COL3A1, COL4A1, FBN1 and ACVR1 were implicated in a study of 91 unrelated

Spontaneous coronary artery dissection

Spontaneous_coronary_artery_dissection

De Barsy syndrome

Medical condition

may include molecular genetic testing. In individuals with a suspected ALDH18A1-related cases, screening for a specific purine synthesis defect could be

De Barsy syndrome

De_Barsy_syndrome

List of human protein-coding genes 1

Q9H2A2 558 ALDH9A1 HGNC:412; P49189 559 ALDH16A1 HGNC:28114; Q8IZ83 560 ALDH18A1 HGNC:9722; P54886 561 ALDOA HGNC:414; P04075 562 ALDOB HGNC:417; P05062

List of human protein-coding genes 1

List_of_human_protein-coding_genes_1

NOXRED1

Human gene

2022-12-08. "Pharos: Target List". pharos.nih.gov. Retrieved 2022-12-11. "ALDH18A1 aldehyde dehydrogenase 18 family member A1 [Homo sapiens (human)] - Gene

NOXRED1