背景
This gene 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. Multiple alternative transcript variants encoding
distinct isoforms have been identified for this gene
