Fabry Disease

A rare X-linked inherited lysosomal storage disorder characterized by deficiency of the enzyme alpha-galactosidase A. It results in the accumulation of glycolipids in the blood vessels and tissues. Signs and symptoms include hypertension, cardiomyopathy, angiokeratomas, neuropathy, hypohidrosis, keratopathy, proteinuria, and renal failure. (NCI Thesaurus)

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FABP5 wt Allele

Human FABP5 wild-type allele is located in the vicinity of 8q21.13 and is approximately 4 kb in length. This allele, which encodes…

FABP5 Gene

This gene plays a role in a variety of processes including fatty acid metabolism, uptake, and transport.

FABP4 wt Allele

Human FABP4 wild-type allele is located within 8q21 and is approximately 5 kb in length. This allele, which encodes fatty acid-binding protein,…

FABP4 Gene

This gene plays a role in the regulation of intracellular transport and in fatty acid metabolism.

FABP3 wt Allele

Human FABP3 wild-type allele is located within 1p33-p32 and is approximately 8 kb in length. This allele, which encodes fatty acid-binding protein,…

FABP3 Gene

This gene plays a role in fatty acid metabolism, but is critical for the growth arrest of mammary epithelial cells. In addition,…