Nasu-Hakola disease

Human TYROBP Gene encodes 113-aa 12-kDa (precursor) disulfide-linked homodimeric Tyr-phosphorylated TYRO Protein Tyrosine Kinase Binding Protein, a type I transmembrane polypeptide containing a cytoplasmic ITAM motif that may act as an activating signal transduction element in bone modeling, brain myelination, and inflammation. TYROBP associates with KIR family membrane glycoproteins without a cytoplasmic ITIM; KIR/TYROBP complexes promote cellular activation. TYROBP interacts with SIRPB1 and may bind TCR zeta chain-associated ZAP-70 kinase and SYK tyrosine kinase. (NCI)