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Studies indicate that the high-risk allele of the 10q26 locus encompasses three genes, PLEKHA1, ARMS2 (zeige ARMS2 Proteine), and HTRA1 (zeige HTRA1 Proteine) with high linkage disequilibrium.
CX3CR1 (zeige CX3CR1 Proteine) (T280M and V249I) and PLEKHA1 (A320T) polymorphisms were not found to be associated with age-related macular degeneration in an Indian population.
This study provides evidence of the joint contribution of genetic variants in PLEKHA1/ARMS2 (zeige ARMS2 Proteine)/HTRA1 (zeige HTRA1 Proteine) to age-related macular degeneration risk.
TAPP1 binds to protein tyrosine phosphatase PTPL1 (zeige PTPN13 Proteine).
syntrophins regulate the localization of TAPP1, which may be important for remodeling the actin cytoskeleton in response to growth factor stimulation
PLEKHA1 is strongly implicated as primarily responsible for the evidence of linkage of age-related maculopathy (ARM) to the 10q26 locus and as a major contributor to ARM.susceptibility.
Although a role for PLEKHA1 could not be totally excluded, there was a four times higher age-related macular degeneration risk was associated with haplotype "A-T-A" involving "PLEKHA1-LOC387715-HTRA1 (zeige HTRA1 Proteine)" risk alleles.
Independent of CFH (zeige CFH Proteine) genotype or smoking history, an individual's risk of AMD (zeige AMD1 Proteine) (age-related macular degeneration) could be increased or decreased, depending on their genotype or haplotype in the 10q26 region.
this study shows that TAPP1/2 double knock-out mice develop chronic germinal centers with age and show abnormal expression of B-cell activation (zeige BLNK Proteine) anddevelop lupus-like characteristics including anti-DNA antibodies and deposition of immune complexes in kidneys
Results identify TAPP1 as an important negative regulator of oligodendrocyte precursor cells differentiation through the Mek (zeige MDK Proteine)/Erk (zeige EPHB2 Proteine) signaling pathway.
interacts with phosphatidylinositol (3,4)-bisphosphate thus regulating B-cell activation (zeige BLNK Proteine) and autoantibody production
This gene encodes a pleckstrin homology domain-containing adapter protein. The encoded protein is localized to the plasma membrane where it specifically binds phosphatidylinositol 3,4-bisphosphate. This protein may be involved in the formation of signaling complexes in the plasma membrane. Polymorphisms in this gene are associated with age-related macular degeneration. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5.
pleckstrin homology domain-containing family A member 1
, pleckstrin homology domain-containing protein family A member 1
, tandem PH domain containing protein-1
, pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1
, tandem PH domain-containing protein 1
, PH domain-containing family A member 1