Product nameHuman PSAP knockout HeLa cell lysate
Access thousands of knockout cell lysates, generated from commonly used cancer cell lines.
See here for more information on knockout cell lysates.
User storage instructions: After reconstitution, store the lysate at -80°C.
Parental Cell LineHeLa
Mutation descriptionKnockout achieved by using CRISPR/Cas9, 1 bp deletion in exon2 and 1 bp insertion in exon2.
Knockout validationSanger Sequencing
Reconstitution notesTo use as WB control, resuspend the lyophilizate in 50 µL of LDS* Sample Buffer to have a final concentration of 2 mg/ml. For reducing conditions, we recommend a final concentration of 0.1 M DTT.
*Usage of SDS sample buffer is not recommended with these lyophilized lysates.
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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.
Storage instructionsStore at -80°C. Please refer to protocols.
Components 1 kit ab261296 - Human PSAP knockout HeLa cell lysate (Lyophilized) 1 x 100µg ab255929 - Human Wild Type HeLa cell lysate (Lyophilized) 1 x 100µg
STR AnalysisAmelogenin X D5S818: 11, 12 D13S317: 12, 13.3 D7S820: 8, 12 D16S539: 9, 10 vWA: 16, 18 TH01: 7 TPOX: 8,12 CSF1PO: 9, 10
FunctionThe lysosomal degradation of sphingolipids takes place by the sequential action of specific hydrolases. Some of these enzymes require specific low-molecular mass, non-enzymic proteins: the sphingolipids activator proteins (coproteins).
Saposin-A and saposin-C stimulate the hydrolysis of glucosylceramide by beta-glucosylceramidase (EC 188.8.131.52) and galactosylceramide by beta-galactosylceramidase (EC 184.108.40.206). Saposin-C apparently acts by combining with the enzyme and acidic lipid to form an activated complex, rather than by solubilizing the substrate.
Saposin-B stimulates the hydrolysis of galacto-cerebroside sulfate by arylsulfatase A (EC 220.127.116.11), GM1 gangliosides by beta-galactosidase (EC 18.104.22.168) and globotriaosylceramide by alpha-galactosidase A (EC 22.214.171.124). Saposin-B forms a solubilizing complex with the substrates of the sphingolipid hydrolases.
Saposin-D is a specific sphingomyelin phosphodiesterase activator (EC 126.96.36.199).
Involvement in diseaseDefects in PSAP are the cause of combined saposin deficiency (CSAPD) [MIM:611721]; also known as prosaposin deficiency. CSAPD is due to absence of all saposins, leading to a fatal storage disorder with hepatosplenomegaly and severe neurological involvement.
Defects in PSAP saposin-B region are the cause of leukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB) [MIM:249900]. MLD-SAPB is an atypical form of metachromatic leukodystrophy. It is characterized by tissue accumulation of cerebroside-3-sulfate, demyelination, periventricular white matter abnormalities, peripheral neuropathy. Additional neurological features include dysarthria, ataxic gait, psychomotr regression, seizures, cognitive decline and spastic quadriparesis.
Defects in PSAP saposin-C region are the cause of atypical Gaucher disease (AGD) [MIM:610539]. Affected individuals have marked glucosylceramide accumulation in the spleen without having a deficiency of glucosylceramide-beta glucosidase characteristic of classic Gaucher disease, a lysosomal storage disorder.
Defects in PSAP saposin-A region are the cause of atypical Krabbe disease (AKRD) [MIM:611722]. AKRD is a disorder of galactosylceramide metabolism. AKRD features include progressive encephalopathy and abnormal myelination in the cerebral white matter resembling Krabbe disease.
Note=Defects in PSAP saposin-D region are found in a variant of Tay-Sachs disease (GM2-gangliosidosis).
Sequence similaritiesContains 2 saposin A-type domains.
Contains 4 saposin B-type domains.
modificationsThis precursor is proteolytically processed to 4 small peptides, which are similar to each other and are sphingolipid hydrolase activator proteins.
N-linked glycans show a high degree of microheterogeneity.
The one residue extended Saposin-B-Val is only found in 5% of the chains.
- Information by UniProt
- A1 activator
- Cerebroside sulfate activator
KO cell lines
To our knowledge, customised protocols are not required for this product. Please try the standard protocols listed below and let us know how you get on.
ab258606 has not yet been referenced specifically in any publications.