Aliases for TYROBP Gene
External Ids for TYROBP Gene
Previous HGNC Symbols for TYROBP Gene
Previous GeneCards Identifiers for TYROBP Gene
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. [provided by RefSeq, Mar 2010]
GeneCards Summary for TYROBP Gene
TYROBP (TYRO Protein Tyrosine Kinase Binding Protein) is a Protein Coding gene. Diseases associated with TYROBP include Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy and Dementia. Among its related pathways are Semaphorin interactions and Innate Immune System. Gene Ontology (GO) annotations related to this gene include identical protein binding and signal transducer activity, downstream of receptor.
UniProtKB/Swiss-Prot for TYROBP Gene
Non-covalently associates with activating receptors of the CD300 family. Cross-linking of CD300-TYROBP complexes results in cellular activation. Involved for instance in neutrophil activation mediated by integrin.