ALDH18A1 Antibody
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Product Specs
Buffer
The antibody is provided in PBS buffer containing 0.1% Sodium Azide, 50% Glycerol, adjusted to pH 7.3. It is stored at -20°C. To maintain optimal antibody performance, it is recommended to avoid repeated freeze-thaw cycles.
Lead Time
Typically, we can ship your order within 1-3 business days of receipt. Delivery times may vary depending on the shipping method and location. Please contact your local distributor for specific delivery time estimates.
Synonyms
2810433K04Rik antibody; AI429789 antibody; Aldehyde dehydrogenase 18 family member A1 antibody; Aldehyde dehydrogenase 18A1 antibody; Aldehyde dehydrogenase family 18 member A1 antibody; ALDH18A1 antibody; Delta 1 pyrroline 5 carboxylate synthetase antibody; Delta1 pyrroline 5 carboxlate synthetase antibody; Gamma-glutamyl kinase antibody; Gamma-glutamyl phosphate reductase antibody; GK antibody; Glutamate-5-semialdehyde dehydrogenase antibody; Glutamyl-gamma-semialdehyde dehydrogenase antibody; GPR antibody; GSAS antibody; MGC117316 antibody; MGC32233 antibody; P5CS antibody; P5CS_HUMAN antibody; PYCS antibody; Pyrroline 5 carboxylate synthetase (glutamate gamma semialdehyde synthetase) antibody
Target Names
ALDH18A1
Uniprot No.
Target Background
Function
ALDH18A1 Antibody recognizes ALDH18A1, also known as Pyrroline-5-carboxylate synthetase (P5CS), a bifunctional enzyme that catalyzes the conversion of glutamate to glutamate 5-semialdehyde. This intermediate is essential for the biosynthesis of proline, ornithine, and arginine.
Gene References Into Functions
- Novel mutations in the ALDH18A1 gene have been identified in patients with complicated hereditary spastic paraplegia, characterized by cerebellar ataxia and cognitive impairment. (PMID: 29915212)
- This study reports the first case of an individual with ALDH18A1-associated dominant cutis laxa (ADCL) due to a mutation at a residue other than Arg138. Understanding the full spectrum of dominant mutations that cause this rare syndrome is important for molecular diagnosis and genetic counseling. (PMID: 28228640)
- The study examines the evolution of the ALDH18A1 gene in vertebrates and invertebrates, proposing a model for generating the bifunctional vertebrate and invertebrate ALDH18A1 gene from a bacterial operon (proBA) encoding glutamyl kinase and glutamyl phosphate reductase. (PMID: 27989597)
- Recurrent de novo mutations affecting residue Arg138 of P5CS have been linked to a progeroid form of autosomal-dominant cutis laxa. (PMID: 26320891)
- Autosomal recessive transmission of ALDH18A1 mutations is associated with predominantly complex hereditary spastic paraplegia with significant cognitive impairment. (PMID: 26026163)
- Two genetic alterations, a frameshift deletion of one nucleotide and a microdeletion affecting the ALDH18A1 gene, were identified in a homozygous state in two patients. (PMID: 24913064)
- This study expands the phenotypic spectrum associated with mutations in ALDH18A1. (PMID: 21739576)
- Genetic variants in ALDH18A1 have been associated with Down syndrome in individuals with Alzheimer's disease dementia. (PMID: 20946940)
- The study analyzes the function and regulation of Delta1-pyrroline-5-carboxylate synthase. (PMID: 18401542)
- These findings suggest that P5CS may have additional uncharacterized functions that influence connective tissue and central nervous system function. (PMID: 18478038)
Database Links
Involvement In Disease
Cutis laxa, autosomal recessive, 3A (ARCL3A); Cutis laxa, autosomal dominant, 3 (ADCL3); Spastic paraplegia 9A, autosomal dominant (SPG9A); Spastic paraplegia 9B, autosomal recessive (SPG9B)
Protein Families
Glutamate 5-kinase family; Gamma-glutamyl phosphate reductase family
Subcellular Location
Mitochondrion inner membrane.
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