Lipase A, Lysosomal Acid (LIPA)
LAL; CESD; Lipase A,Lysosomal Acid,Cholesterol Esterase(Wolman Disease); Acid Cholesteryl Ester Hydrolase; Lysosomal acid lipase/cholesteryl ester hydrolase
- Lysosomal acid lipase (LIPA, or LAL), otherwise known as acid cholesteryl ester hydrolase, is coded for by a gene (LIPA) on chromosome 10. Two major disorders, the severe infantile-onset Wolman disease and the milder late-onset cholesteryl ester storage disease (CESD), are seemingly caused by mutations in different parts of the LIPA gene.
- Aslanidis et al. (1996) provided evidence that a strikingly more severe course of Wolman disease is caused by genetic defects of LAL that leave no residual enzyme activity. In a CESD patient, a G-to-A transition at position -1 of the exon 8 splice donor site resulted in skipping of exon 8 in 97% of the mRNA originating from this allele, while 3% was spliced correctly, resulting in full-length LAL enzyme.
Organism species: Homo sapiens (Human)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | RPT556Hu01 | Recombinant Lipase A, Lysosomal Acid (LIPA) | Positive Control; Immunogen; SDS-PAGE; WB. |
| Antibodies | MAT556Hu01 | Monoclonal Antibody to Lipase A, Lysosomal Acid (LIPA) | WB; IHC; ICC; IP. |
| PAT556Hu01 | Polyclonal Antibody to Lipase A, Lysosomal Acid (LIPA) | WB; IHC; ICC; IF. | |
| Assay Kits | CLT556Hu01 | CLIA Kit for Lipase A, Lysosomal Acid (LIPA) | CLIA assay for Antigen Detection |
| ELT556Hu01 | ELISA Kit for Lipase A, Lysosomal Acid (LIPA) | Enzyme-linked immunosorbent assay for Antigen Detection |
Organism species: Mus musculus (Mouse)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | RPT556Mu01 | Recombinant Lipase A, Lysosomal Acid (LIPA) | Positive Control; Immunogen; SDS-PAGE; WB. |
| Antibodies | MAT556Mu01 | Monoclonal Antibody to Lipase A, Lysosomal Acid (LIPA) | WB; IHC; ICC; IP. |
| PAT556Mu01 | Polyclonal Antibody to Lipase A, Lysosomal Acid (LIPA) | WB; IHC; ICC; IF. | |
| Assay Kits | CLT556Mu01 | CLIA Kit for Lipase A, Lysosomal Acid (LIPA) | CLIA assay for Antigen Detection |
| ELT556Mu01 | ELISA Kit for Lipase A, Lysosomal Acid (LIPA) | Enzyme-linked immunosorbent assay for Antigen Detection |
Organism species: Rattus norvegicus (Rat)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | RPT556Ra01 | Recombinant Lipase A, Lysosomal Acid (LIPA) | Positive Control; Immunogen; SDS-PAGE; WB. |
| Antibodies | MAT556Ra01 | Monoclonal Antibody to Lipase A, Lysosomal Acid (LIPA) | WB; IHC; ICC; IP. |
| PAT556Ra01 | Polyclonal Antibody to Lipase A, Lysosomal Acid (LIPA) | WB; IHC; ICC; IF. | |
| Assay Kits | CLT556Ra01 | CLIA Kit for Lipase A, Lysosomal Acid (LIPA) | CLIA assay for Antigen Detection |
| ELT556Ra01 | ELISA Kit for Lipase A, Lysosomal Acid (LIPA) | Enzyme-linked immunosorbent assay for Antigen Detection |
Organism species: Canis familiaris; Canine (Dog)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | RPT556Ca01 | Recombinant Lipase A, Lysosomal Acid (LIPA) | Positive Control; Immunogen; SDS-PAGE; WB. |
| Antibodies | MAT556Ca01 | Monoclonal Antibody to Lipase A, Lysosomal Acid (LIPA) | WB; IHC; ICC; IP. |
| PAT556Ca01 | Polyclonal Antibody to Lipase A, Lysosomal Acid (LIPA) | WB; IHC; ICC; IF. | |
| Assay Kits | CLT556Ca01 | CLIA Kit for Lipase A, Lysosomal Acid (LIPA) | CLIA assay for Antigen Detection |
| ELT556Ca01 | ELISA Kit for Lipase A, Lysosomal Acid (LIPA) | Enzyme-linked immunosorbent assay for Antigen Detection |
Organism species: Sus scrofa; Porcine (Pig)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | RPT556Po01 | Recombinant Lipase A, Lysosomal Acid (LIPA) | Positive Control; Immunogen; SDS-PAGE; WB. |
| Antibodies | MAT556Po01 | Monoclonal Antibody to Lipase A, Lysosomal Acid (LIPA) | WB; IHC; ICC; IP. |
| PAT556Po01 | Polyclonal Antibody to Lipase A, Lysosomal Acid (LIPA) | WB; IHC; ICC; IF. | |
| Assay Kits | CLT556Po01 | CLIA Kit for Lipase A, Lysosomal Acid (LIPA) | CLIA assay for Antigen Detection |
| ELT556Po01 | ELISA Kit for Lipase A, Lysosomal Acid (LIPA) | Enzyme-linked immunosorbent assay for Antigen Detection |
Organism species: Bos taurus; Bovine (Cattle)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | RPT556Bo01 | Recombinant Lipase A, Lysosomal Acid (LIPA) | Positive Control; Immunogen; SDS-PAGE; WB. |
| Antibodies | MAT556Bo01 | Monoclonal Antibody to Lipase A, Lysosomal Acid (LIPA) | WB; IHC; ICC; IP. |
| PAT556Bo01 | Polyclonal Antibody to Lipase A, Lysosomal Acid (LIPA) | WB; IHC; ICC; IF. | |
| Assay Kits | CLT556Bo01 | CLIA Kit for Lipase A, Lysosomal Acid (LIPA) | CLIA assay for Antigen Detection |
| ELT556Bo01 | ELISA Kit for Lipase A, Lysosomal Acid (LIPA) | Enzyme-linked immunosorbent assay for Antigen Detection |
Organism species: Oryctolagus cuniculus (Rabbit)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | RPT556Rb01 | Recombinant Lipase A, Lysosomal Acid (LIPA) | Positive Control; Immunogen; SDS-PAGE; WB. |
| Antibodies | MAT556Rb01 | Monoclonal Antibody to Lipase A, Lysosomal Acid (LIPA) | WB; IHC; ICC; IP. |
| PAT556Rb01 | Polyclonal Antibody to Lipase A, Lysosomal Acid (LIPA) | WB; IHC; ICC; IF. | |
| Assay Kits | CLT556Rb01 | CLIA Kit for Lipase A, Lysosomal Acid (LIPA) | CLIA assay for Antigen Detection |
| ELT556Rb01 | ELISA Kit for Lipase A, Lysosomal Acid (LIPA) | Enzyme-linked immunosorbent assay for Antigen Detection |
Organism species: Rhesus monkey (Simian)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | RPT556Mo01 | Recombinant Lipase A, Lysosomal Acid (LIPA) | Positive Control; Immunogen; SDS-PAGE; WB. |
| Antibodies | MAT556Mo01 | Monoclonal Antibody to Lipase A, Lysosomal Acid (LIPA) | WB; IHC; ICC; IP. |
| PAT556Mo01 | Polyclonal Antibody to Lipase A, Lysosomal Acid (LIPA) | WB; IHC; ICC; IF. | |
| Assay Kits | CLT556Mo01 | CLIA Kit for Lipase A, Lysosomal Acid (LIPA) | CLIA assay for Antigen Detection |
| ELT556Mo01 | ELISA Kit for Lipase A, Lysosomal Acid (LIPA) | Enzyme-linked immunosorbent assay for Antigen Detection |
Reference
"Cloning and expression of cDNA encoding human lysosomal acid lipase/cholesteryl ester hydrolase. Similarities to gastric and lingual lipases."
J. Biol. Chem. 266:22479-22484(1991) [PubMed] [Europe PMC] [Abstract]
"Purification, characterization and molecular cloning of human hepatic lysosomal acid lipase."
Eur. J. Biochem. 219:905-914(1994) [PubMed] [Europe PMC] [Abstract]
"Tissue and cellular specific expression of murine lysosomal acid lipase mRNA and protein."
J. Lipid Res. 37:937-949(1996) [PubMed] [Europe PMC] [Abstract]
"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
"The DNA sequence and comparative analysis of human chromosome 10."
Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
"Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease."
Proc. Natl. Acad. Sci. U.S.A. 91:2718-2722(1994) [PubMed] [Europe PMC] [Abstract]
"Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals."
Hum. Mutat. 12:44-51(1998) [PubMed] [Europe PMC] [Abstract]