CD56 Polyclonal Antibody, 50ul[BT-AP02296] Protein Analysis an autosomal-recessive disease

an autosomal-recessive disease

Mutations in ACVRL1 are associated with hemorrhagic telangiectasia type 2

that arises within the acrosomal vesicle during spermatogenesis

the major process by which intracellular components are targeted to lysosomes for degradation

This gene likely encodes a membrane receptor

CD56 Polyclonal Antibody, 50ul[BT-AP02296] Protein Analysis an autosomal-recessive diseaseCTDSP1 encodes a member of the small C terminal domain phosphatase (SCP) family of nuclear phosphatases. These proteins play a role in transcriptional regulation through specific dephosphorylation of phosphoserine 5 within tandem heptapeptide repeats of the C terminal domain of RNA polymerase II. The encoded protein (CTD small phosphatase 1) plays a role in neuronal gene silencing in non neuronal cells, and may also inhibit osteoblast differentiation.