LP188536-9
TYROBP gene
Active
Description
The TYROBP gene (TYRO protein tyrosine kinase binding protein) [HGNC Gene ID:12449] is located on chromosome 19q13.1. 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] [NCBI Gene ID:7305] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- TYROBP gene
- Part Display Name
- TYROBP gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2015-01-09
- Construct for LOINC Short Name
- TYROBP
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | TYROBP 基因 Synonyms: DNAX-激活蛋白 12; |
| es-ES | Spanish (Spain) | Gen TYROBP |
| it-IT | Italian (Italy) | TYROBP, gene Synonyms: Gene TYROBP |
| tr-TR | Turkish (Turkey) | TYROBP geni |
| nl-NL | Dutch (Netherlands) | TYROBP-gen Synonyms: TYROBP gen |
| fr-FR | French (France) | TYROBP gène |
| pl-PL | Polish (Poland) | TYROBP gen Synonyms: Gen TYROBP |
| el-GR | Greek (Greece) | Γονίδιο TYROBP Synonyms: Γονίδιο TYROBP |
LOINC Copyright
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