Gene: LOC105375056
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
Gene: TREML1
Alternate names for this Gene: GLTL1825|PRO3438|TLT-1|TLT1|dJ238O23.3
Gene Summary: This gene encodes a member of the triggering receptor expressed on myeloid cells-like (TREM) family. The encoded protein is a type 1 single Ig domain orphan receptor localized to the alpha-granule membranes of platelets. The encoded protein is involved in platelet aggregation, inflammation, and cellular activation and has been linked to Gray platelet syndrome. Alternative splicing results in multiple transcript variants
Gene is located in Chromosome: 6
Location in Chromosome : 6p21.1
Description of this Gene: triggering receptor expressed on myeloid cells like 1
Type of Gene: protein-coding
Gene: TREM2
Alternate names for this Gene: PLOSL2|TREM-2|Trem2a|Trem2b|Trem2c
Gene Summary: This gene encodes a membrane protein that forms a receptor signaling complex with the TYRO protein tyrosine kinase binding protein. The encoded protein functions in immune response and may be involved in chronic inflammation by triggering the production of constitutive inflammatory cytokines. Defects in this gene are a cause of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL). Alternative splicing results in multiple transcript variants encoding different isoforms.
Gene is located in Chromosome: 6
Location in Chromosome : 6p21.1
Description of this Gene: triggering receptor expressed on myeloid cells 2
Type of Gene: protein-coding
rs28939079 in
LOC105375056;TREML1;TREM2 gene and
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
PMID 25615530 2015 Disease-Associated Mutations of TREM2 Alter the Processing of N-Linked Oligosaccharides in the Golgi Apparatus.
PMID 12925681 2003 DAP12/TREM2 deficiency results in impaired osteoclast differentiation and osteoporotic features.
PMID 15883308 2005 The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2.
PMID 23399524 2013 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL): a new report of an Italian woman and review of the literature.
PMID 27995897 2016 Neurodegenerative disease mutations in TREM2 reveal a functional surface and distinct loss-of-function mechanisms.
PMID 12754369 2003 An Italian family affected by Nasu-Hakola disease with a novel genetic mutation in the TREM2 gene.
PMID 12080485 2002 Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype.
PMID 28768830 2017 Neurodegeneration-associated mutant TREM2 proteins abortively cycle between the ER and ER-Golgi intermediate compartment.
PMID 29142083 2017 Evidence of CNS β-amyloid deposition in Nasu-Hakola disease due to the TREM2 Q33X mutation.