TYRO
protein tyrosine kinase-binding protein is an adapter protein that in humans is encoded by the ''TYROBP''
gene.
Function
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 immunoglobulin-like receptor (KIR) family of membrane glycoproteins and may act as an activating
signal transduction
Signal transduction is the process by which a chemical or physical signal is transmitted through a cell as a series of molecular events, most commonly protein phosphorylation catalyzed by protein kinases, which ultimately results in a cellula ...
element. This protein may bind zeta-chain associated protein kinase 70 kDa (
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. Two alternative transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described, but their full-length nature has not been determined.
Interactions
TYROBP has been shown to
interact with
SIRPB1
Signal-regulatory protein beta-1 is a protein that in humans is encoded by the ''SIRPB1'' gene. SIRPB1 has also recently been designated CD172B (cluster of differentiation 172B).
The protein encoded by this gene is a member of the signal-regulator ...
.
References
External links
GeneReviews/NIH/NCBI/UW entry on Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL)
Further reading
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