Rabbit Anti-Lysosomal acid lipase antibody

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Acid Cholesteryl Ester Hydrolase; CESD; cholesterol ester hydrolase; cholesterol ester storage disease; Cholesteryl Esterase; Hydrolase deficiency; LAL; LAL deficiency cholesterol ester; LICH_HUMAN; LIPA; LIPA deficiency; Lipase A; lipase A, l

Cat:

SL18592R

Species Reactivity：

(predicted: Human,Mouse,Rat,Cow,Horse,Sheep,)

Immunogen：

KLH conjugated synthetic peptide derived from human Lysosomal acid lipase:101-200/399

Format：

Liquid

Storage instructions：

Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.

Concentration：

1mg/ml

Clonality：

Polyclonal

Isotype：

IgG

Applications：

ELISA=1:5000-10000not yet tested in other applications.optimal dilutions/concentrations should be determined by the end user.

Host：

Rabbit

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Unit:

Price: $228.00

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Other Information
Citations
Protein Attributes
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This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). This enzyme functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglycerides. Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]

Function:
Crucial for the intracellular hydrolysis of cholesteryl esters and triglycerides that have been internalized via receptor-mediated endocytosis of lipoprotein particles. Important in mediating the effect of LDL (low density lipoprotein) uptake on suppression of hydroxymethylglutaryl-CoA reductase and activation of endogenous cellular cholesteryl ester formation.

Subcellular Location:
Lysosome.

DISEASE:
Defects in LIPA are the cause of Wolman disease (WOD) [MIM:278000]. WOD is a severe manifestation of LIPA deficiency, leading to the accumulation of cholesteryl esters and triglycerides in most tissues of the body. WOD occurs in infancy and is nearly always fatal before the age of 1 year.
Defects in LIPA are the cause of cholesteryl ester storage disease (CESD) [MIM:278000]. CESD is a mild manifestation of LIPA deficiency, leading to the accumulation of cholesteryl esters and triglycerides in most tissues of the body. It is characterized by late-onset.

Similarity:
Belongs to the AB hydrolase superfamily. Lipase family.

SWISS:
P38571

Gene ID:
3988

Database links:

Entrez Gene: 3988 Human

Omim: 278000 Human

SwissProt: P38571 Human

Unigene: 643030 Human

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