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Lipoprotein Deficiency (Domestic Short/Long Hair Type)*
Test Overview:
Cats with LLPL) do have defective LPL catalytic activity and have a clinical phenotype very similar to human LPL deficiency. Affected cat has a nucleotide change resulting in a substitution of arginine for glycine at residue 412 in exon 8. In vitro mutagenesis and expression studies, in addition to segregation analysis, have shown that this DNA change is the cause of LPL.
Category:
Metabolic - Associated with the enzymes and metabolic processes of cells
Gene:
LPL
Variant Detected:
Base Substitution
Severity:
Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.
Mode of Inheritance:
Autosomal Recessive
Research Citation(s):
J Clin Invest. 1996 Mar 1;97(5):1257-66