UT2 Rabbit Polyclonal Antibody, 100ul Enzymes Mutations in this gene are

Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD)| an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia| renal dysfunction| and T-cell immunodeficiency

Diseases associated with PIPOX include peroxisomal biogenesis disorders

The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family

Elastase 3B preferentially cleaves proteins after alanine residues

The encoded protein is also a putative tumor suppressor protein| and decreased expression of this gene is associated with several malignancies including breast cancer and adult T-cell leukemia

UT2 Rabbit Polyclonal Antibody, 100ul Enzymes Mutations in this gene areThe protein encoded by this gene belongs to the urea transporter family. In mammalian cells urea is the chief end product of nitrogen catabolism and plays an important role in the urinary concentration mechanism. This protein is expressed in the inner medulla of the kidney and mediates rapid transepithelial urea transport across the inner medullary collecting duct. Alternatively spliced transcript variants have been found for this gene.