P5CS (016) Muis mAb

[P5CS]

5832

Human

Store at -20 °C. Stable for one year from the date of shipment.

[ALDH18A1; ALDH18A1; GSAS; P5CS; PYCS; SPG9; ADCL3; SPG9A; SPG9B; ARCL3A; GSAS; P5CS; PYCS; P5CS; GK; GPR]

[P5CS]

[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.]

62912457

NP_001017423.1

NM_001017423.1

P54886