UBP4 Rabbit Polyclonal Antibody, 100ul Cryopreservation Freeman-Sheldon syndrome and Sheldon-Hall syndrome

Freeman-Sheldon syndrome and Sheldon-Hall syndrome

It is located at the 3' of the NOC4 (neighbor of COX4) gene in a head-to-head orientation

Alternative splicing results in several additional transcript variants| some encoding different isoforms and others that have not been fully characterized

The SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 is upregulated in response to viral infection and may be involved in mediation of tumor necrosis factor-alpha proinflammatory responses

Both full length and cleaved proteins are secreted extracellularly and can function in axon repulsion as well as other specific processes

UBP4 Rabbit Polyclonal Antibody, 100ul Cryopreservation Freeman-Sheldon syndrome and Sheldon-Hall syndromeThe protein encoded by this gene is a protease that deubiquitinates target proteins such as ADORA2A and TRIM21. The encoded protein shuttles between the nucleus and cytoplasm and is involved in maintaining operational fidelity in the endoplasmic reticulum. Three transcript variants encoding different isoforms have been found for this gene.