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AB258300

Human ALDH18A1 (P5CS) knockout HEK-293T cell lysate

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ALDH18A1 KO cell lysate available now. KO validated by. Free of charge wild type control included. Knockout achieved by using CRISPR/Cas9, 1 bp deletion in exon 2 and 1 bp insertion in exon 2.

View Alternative Names

2810433K04Rik, AI429789, ALDH18A1, Aldehyde dehydrogenase 18 family member A1, Aldehyde dehydrogenase 18A1, Aldehyde dehydrogenase family 18 member A1, Delta 1 pyrroline 5 carboxylate synthetase, Delta1 pyrroline 5 carboxlate synthetase, GK, GPR, GSAS, Gamma-glutamyl kinase, Gamma-glutamyl phosphate reductase, Glutamate-5-semialdehyde dehydrogenase, Glutamyl-gamma-semialdehyde dehydrogenase, MGC117316, MGC32233, P5CS_HUMAN, PYCS, Pyrroline 5 carboxylate synthetase (glutamate gamma semialdehyde synthetase)

2 Images
Sanger Sequencing - Human ALDH18A1 (P5CS) knockout HEK-293T cell lysate (AB258300)
  • Sanger seq

Unknown

Sanger Sequencing - Human ALDH18A1 (P5CS) knockout HEK-293T cell lysate (AB258300)

Allele-1 : 1 bp deletion in exon 2

Sanger Sequencing - Human ALDH18A1 (P5CS) knockout HEK-293T cell lysate (AB258300)
  • Sanger seq

Unknown

Sanger Sequencing - Human ALDH18A1 (P5CS) knockout HEK-293T cell lysate (AB258300)

Allele-2 : 1 bp insertion in exon 2

Key facts

Cell type

HEK-293T

Species or organism

Human

Tissue

Kidney

Knockout validation

Sanger Sequencing

Mutation description

Knockout achieved by using CRISPR/Cas9, 1 bp deletion in exon 2 and 1 bp insertion in exon 2.

Product details

Knockout cell lysate achieved by CRISPR/Cas9.

REACH authorisation
Abcam has not and does not intend to apply for the REACH Authorisation of customers' uses of products that contain European Authorisation list (Annex XIV) substances.
It is the responsibility of our customers to check the necessity of application of REACH Authorisation, and any other relevant authorisations, for their intended uses.

Lysate preparation: Our lysates are made using RIPA buffer to which we add a protease inhibitor cocktail and phosphatase inhibitor cocktail (ratio: 300:100:10). This means that the protein of interest is denatured. If you require a native form of the protein please use the live cell version. Please refer to our lysis protocol for further details on how our lysates are prepared.

User storage instructions: Lyophilizate may be stored at 4°C. After reconstitution, store at -20°C for short-term storage or -80°C for long-term storage.

This product is subject to limited use licenses from The Broad Institute, ERS Genomics Limited and Sigma-Aldrich Co. LLC, and is developed with patented technology. For full details of the licenses and patents please refer to our limited use license and patent pages.

What's included?

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Properties and storage information

Gene name
ALDH18A1
Gene editing type
Knockout
Gene editing method
CRISPR technology
Knockout validation
Sanger Sequencing
Shipped at conditions
Ambient - Can Ship with Ice
Appropriate short-term storage conditions
-20°C
Appropriate long-term storage conditions
-20°C

Supplementary information

This supplementary information is collated from multiple sources and compiled automatically.

Pyrroline-5-carboxylate synthetase (P5CS) also known as ALDH18A1 plays an important role in proline biosynthesis. This enzyme catalyzes the conversion of glutamate to pyrroline-5-carboxylate. The P5CS protein has a molecular mass of approximately 87 kDa and is mainly expressed in tissues with high rates of protein synthesis such as the liver and kidney. It has significant expression in the mitochondria reinforcing its function in energy metabolism and amino acid biosynthesis.
Biological function summary

P5CS influences cellular responses to oxidative stress due to its role in proline metabolism and redox balance. As part of the proline synthesis pathway P5CS contributes to the production of proline a critical amino acid for protein synthesis. Proline acts as an osmoprotectant and plays a role in cellular structure. P5CS operates within a complex pathway regulating amino acids acting cooperatively with other proteins involved in synthesis processes.

Pathways

P5CS is integral to the proline biosynthetic pathway and is linked to the glutamate pathway. Its activity closely coordinates with the functioning of enzymes like pyrroline-5-carboxylate reductase which converts pyrroline-5-carboxylate to proline. This relationship ensures the continuous supply of proline vital for collagen synthesis and also intersects with pathways involving protein metabolism and cellular stress responses.

Altered P5CS function associates with conditions like cutis laxa and hyperprolinemia. Mutations in the P5CS gene can lead to dysfunction in proline metabolism resulting in elastic skin joint and bone issues and mental retardation in some individuals. The enzyme's interaction with proteins such as the collagen metabolism enzymes highlights its relevance in dermatological and connective tissue disorders.

Quality control

STR analysis

CSF1PO, D13S317, D7S820, D5S818, TH01, D16S539, TPOX

Cell culture

Biosafety level

EU: 2 US: 2

Adherent/suspension

Adherent

Gender

Female

Product protocols

Product promise

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