ITBP1 Polyclonal Antibody, 100ul Immune Repertoire Sequencing Defects in this gene are

Defects in this gene are a cause of congenital secretory sodium diarrhea

Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5

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including those of JAK2

and the SART1(259) protein expressed in the cytosol of epithelial cancers

ITBP1 Polyclonal Antibody, 100ul Immune Repertoire Sequencing Defects in this gene areThe cytoplasmic domains of integrins are essential for cell adhesion. The protein encoded by this gene binds to the beta1 integrin cytoplasmic domain. The interaction between this protein and beta1 integrin is highly specific. Two isoforms of this protein are derived from alternatively spliced transcripts. The shorter form of this protein does not interact with the beta1 integrin cytoplasmic domain. The longer form is a phosphoprotein and the extent