ALDH18A1 Antibody

1. Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment. PMID: 29915212
2. This is the first report of an individual with ALDH18A1-ADCL due to a substitution at a residue other than p.Arg138. Knowledge of the complete spectrum of dominant-acting mutations that cause this rare syndrome will have implications for molecular diagnosis and genetic counselling of these families. PMID: 28228640
3. ALDH18A1 gene during vertebrate and invertebrate evolution and a proposal for generating the bifunctional vertebrate and invertebrate ALDH18A1 gene from a bacterial operon (proBA) encoding glutamyl kinase and glutamyl phosphate reductase. PMID: 27989597
4. Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. PMID: 26320891
5. autosomal recessive transmission of ALDH18A1 mutations, and predominant complex hereditary spastic paraplegia with marked cognitive impairment PMID: 26026163
6. A frameshift deletion of one nucleotide and a microdeletion affecting the ALDH18A1 gene, respectively, in a homozygous state in both patients, was identified. PMID: 24913064
7. expansion of the phenotypic spectrum associated with mutations in ALDH18A1 PMID: 21739576
8. ALDH18A1 genetic variants are associated with Down syndrome in subjects with dementia of Alzheimer's disease. PMID: 20946940
9. analysis of function and regulation of Delta1-pyrroline-5-carboxylate synthase PMID: 18401542
10. These data suggest that P5CS may possess additional uncharacterised functions that affect connective tissue and central nervous system function. PMID: 18478038

Show More

Hide All

HGNC: 9722

OMIM: 138250

KEGG: hsa:5832

STRING: 9606.ENSP00000360268

UniGene: Hs.500645