STAM2(Phospho Tyr192) Polyclonal Antibody, 50ul Culture Media Deficiencies lead to the skeletal

Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia

Mutation in one of the family members (bestrophin 1) is associated with vitelliform macular dystrophy

Mutations in this gene are associated with 2 neurologic disorders

The chimeric transcript is an in-frame fusion of NUP98 exon 8 to PSIP1/LEDGF exon 4

Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols

STAM2(Phospho Tyr192) Polyclonal Antibody, 50ul Culture Media Deficiencies lead to the skeletalThe protein encoded by this gene is closely related to STAM an adaptor protein involved in the downstream signaling of cytokine receptors both of which contain a SH3 domain and the immunoreceptor tyrosine based activation motif (ITAM). Similar to STAM this protein acts downstream of JAK kinases and is phosphorylated in response to cytokine stimulation. This protein and STAM thus are thought to exhibit compensatory effects on the signaling pathway