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Intestinal Cobalamin Malabsorption (Australian Shepherd Type) - SINGLE ASSAY TEST

Intestinal Cobalamin Malabsorption (Australian Shepherd Type) - SINGLE ASSAY TEST

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Test Overview:

Amnionless (AMN) and cubilin gene products appear to be essential functional subunits of an endocytic receptor called cubam. Mutation of either gene causes autosomal recessive Imerslund-Gräsbeck syndrome (I-GS, OMIM no. 261100) in humans, a disorder characterized by selective intestinal malabsorption of cobalamin (vitamin B12) and urinary loss of several specific low-molecular-weight proteins. Vital insight into the molecular pathology of I-GS has been obtained from studies of dogs with a similar syndrome.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

Amnion associated transmembrane protein (AMN) on chromosome 8

Variant Detected:

c.3G>A

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

He Q, et al. Amnionless function is required for cubilin brush-border expression and intrinsic factor-cobalamin (vitamin B12) absorption in vivo. (2005) Blood, 106(4):1447-53.

Associated Breed(s):

Australian Shepherd,

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