| UniProt Protein Function: | TMEM106B: TMEM106B genotype, when containing 3 particular single-nucleotide polymorphisms, is strongly correlated with frontotemporal lobar degeneration with TAR DNA-binding protein (TDP-43) inclusions (FTLD-TDP). Frontotemporal lobar degeneration (FTLD) is the second most common cause of presenile dementia and 20% of patients with this neurodegenerative disease have autosomal dominant GRN mutations. Expression of TMEM106B associated with these polymorphisms is increased in frontal cortex of patients with FTLD-TDP compared to unaffected controls. Thus, increased TMEM106B expression in the brain may be linked to mechanisms of disease in FTLD-TDP and risk alleles confer genetic susceptibility by increasing gene expression. Belongs to the TMEM106 family.Protein type: Membrane protein, integralChromosomal Location of Human Ortholog: 7p21.3Cellular Component: intracellular membrane-bound organelle; lysosomal membrane; late endosome membrane; integral to membraneMolecular Function: protein bindingBiological Process: lysosome localization; transport; dendrite morphogenesis |
| UniProt Protein Details: | |
| NCBI Summary: | |
| UniProt Code: | Q9NUM4 |
| NCBI GenInfo Identifier: | 109895058 |
| NCBI Gene ID: | |
| NCBI Accession: | Q9NUM4.2 |
| UniProt Secondary Accession: | Q9NUM4 |
| UniProt Related Accession: | Q9NUM4 |
| Molecular Weight: | |
| NCBI Full Name: | Transmembrane protein 106B |
| NCBI Synonym Full Names: | |
| NCBI Official Symbol: | |
| NCBI Official Synonym Symbols: | |
| NCBI Protein Information: | |
| UniProt Protein Name: | Transmembrane protein 106B |
| UniProt Synonym Protein Names: | |
| Protein Family: | Transmembrane protein |
| UniProt Gene Name: | TMEM106B |
| UniProt Entry Name: | T106B_HUMAN |
