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Rabbit Anti-TMEM106B/FITC Conjugated antibody
background:
TMEM106B is a 274 amino acid single-pass membrane protein that is encoded by a gene which maps to human chromosome 7. Chromosome 7 houses over 1,000 genes and comprises nearly 5% of the human genome. Defects in some of the genes localized to chromosome 7 have been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. The deletion of a portion of the q arm of chromosome 7 is associated with Williams-Beuren syndrome, a condition characterized by mild mental retardation, an unusual comfort and friendliness with strangers and an elfin appearance. Deletions of portions of the q arm of chromosome 7 are also seen in a number of myeloid disorders, including cases of acute myelogenous leukemia and myelodysplasia.
Subcellular Location:
Late endosome membrane; Single-pass type II membrane protein. Lysosome membrane; Single-pass type II membrane protein.
Tissue Specificity:
Expressed in frontal cortex.
DISEASE:
Note=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.
Similarity:
Belongs to the TMEM106 family.
Database links:
Entrez Gene: 54664 Human
Entrez Gene: 71900 Mouse
Entrez Gene: 312132 Rat
Omim: 613413 Human
SwissProt: Q9NUM4 Human
SwissProt: Q80X71 Mouse
SwissProt: Q6AYA5 Rat
Unigene: 396358 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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