TYRO Protein Tyrosine Kinase Binding Protein (TYROBP)

DAP12; KARAP; PLOSL; Killer Activating Receptor Associated Protein; DNAX-Activation Protein 12

SPN	Q281
HGNC	12449
MGI	1277211
PubMed	10888890
RGD	1303081
UniProt	O43914
Wiki	TYROBP

TYROBP encodes a transmembrane signaling polypeptide which contains an immunoreceptor tyrosine-based activation motif (ITAM) in its cytoplasmic domain. The encoded protein may associate with the killer-cell inhibitory receptor (KIR) family of membrane glycoproteins and may act as an activating signal transduction element. This protein may bind zeta-chain (TCR) associated protein kinase 70kDa (ZAP-70) and spleen tyrosine kinase (SYK) and play a role in signal transduction, bone modeling, brain myelination, and inflammation. Mutations within this gene have been associated with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease. Its putative receptor, triggering receptor expressed on myeloid cells 2 (TREM2), also causes PLOSL.

Reference

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