PIP5KIII Polyclonal Antibody, 20ul[BT-AP07185] DNA Libraries Synthesis Mutations in CREBBP cause Rubinstein-Taybi

Mutations in CREBBP cause Rubinstein-Taybi syndrome (RTS)

ITPK1 encodes an enzyme that belongs to the inositol 1

Its protein inhibits activated C1r and C1s of the first complement component and thus regulates complement activation

Their cellular concentrations are regulated by the encoded protein

Defects in this gene are a cause of Charcot-Marie-Tooth disease type 2F (CMT2F) and distal hereditary motor neuropathy (dHMN)

PIP5KIII Polyclonal Antibody, 20ul[BT-AP07185] DNA Libraries Synthesis Mutations in CREBBP cause Rubinstein-TaybiPhosphorylated derivatives of phosphatidylinositol (PtdIns) regulate cytoskeletal functions, membrane trafficking, and receptor signaling by recruiting protein complexes to cell and endosomal membranes. Humans have multiple PtdIns proteins that differ by the degree and position of phosphorylation of the inositol ring. PIKFYVE encodes an enzyme (PIKfyve; also known as phosphatidylinositol 3 phosphate 5 kinase type III or PIPKIII) that phosphorylates