P5CS (016) Mouse mAb
Product Specifications
Gene Name
[P5CS]
NCBI Gene ID
5832
Reactivity
Human
Storage Conditions
Store at -20 °C. Stable for one year from the date of shipment.
Other Gene Names
[ALDH18A1; ALDH18A1; GSAS; P5CS; PYCS; SPG9; ADCL3; SPG9A; SPG9B; ARCL3A; GSAS; P5CS; PYCS; P5CS; GK; GPR]
Short Name
[P5CS]
Other Product Names
[delta-1-pyrroline-5-carboxylate synthase isoform 2; Delta-1-pyrroline-5-carboxylate synthase; delta-1-pyrroline-5-carboxylate synthase; aldehyde dehydrogenase 18 family member A1; Aldehyde dehydrogenase family 18 member A1Including the following 2 domains:Glutamate 5-kinase (EC:2.7.2.111 PublicationManual assertion based on experiment iniRef.14"ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism."Panza E., Escamilla-Honrubia J.M., Marco-Marin C., Gougeard N., De Michele G., Morra V.B., Liguori R., Salviati L., Donati M.A., Cusano R., Pippucci T., Ravazzolo R., Nemeth A.H., Smithson S., Davies S., Hurst J.A., Bordo D., Rubio V., Seri M.Brain 139:E3-E3(2016) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, CATALYTIC ACTIVITY, PATHWAY, SUBUNIT, SUBCELLULAR LOCATION, INVOLVEMENT IN SPG9A, VARIANTS SPG9A LEU-243 AND GLN-252, CHARACTERIZATION OF VARIANTS SPG9A LEU-243 AND GLN-252.]
NCBI GI Number
62912457
NCBI Accession Number
NP_001017423.1
NCBI GB Accession Number
NM_001017423.1
Uniprot Accession Number
P54886
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