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Mutations in this gene have been shown to cause an X-linked dominant STAR syndrome that typically manifests syndactyly

Inhibits tyrosine kinases that are required for IL2 production and cellular proliferation

Mutations also have been associated with hereditary capillary malformations (CM) with or without arteriovenous malformations (AVM) and Parkes Weber syndrome

MDFIC Polyclonal Antibody, 50ul Isothermal Amplification Take your research to newThis gene product is a member of a family of proteins characterized by a specific cysteine rich C terminal domain, which is involved in transcriptional regulation of viral genome expression. Alternative translation initiation from an upstream non AUG (GUG), and an in frame, downstream AUG codon, results in the production of two isoforms, p40 and p32, respectively, which have different subcellular localization; p32 is mainly found in the cytoplasm,