uniprot:Q8K479 in citationmapping

2 results for uniprot:Q8K479 in citationmapping

Disease mechanisms in late-onset retinal macular degeneration associated with mutation in C1QTNF5. Shu X., Tulloch B., Lennon A., Vlachantoni D., Zhou X., Hayward C., Wright A.F. Hum. Mol. Genet. 15:1680-1689(2006) GeneRIF 235312 · Mapped (5) L-ORMD is due to insufficient levels of secreted C1QTNF5 compromised RPE cell function resulting from ER retention of the mutant protein or both mechanisms. GeneRIF 235312
CTRP5 is a membrane-associated and secretory protein in the RPE and ciliary body and the S163R mutation of CTRP5 impairs its secretion. Mandal M.N., Vasireddy V., Reddy G.B., Wang X., Moroi S.E., Pattnaik B.R., Hughes B.A., Heckenlively J.R., Hitchcock P.F., Jablonski M.M. et al. Invest. Ophthalmol. Vis. Sci. 47:5505-5513(2006) GeneRIF 235312 · Mapped (15) CTRP5 a secretory and membrane-associated protein is localized to the lateral and apical membranes of the RPE and CB. Impaired secretion of the mutant protein may underlie the pathophysiology of long anterior zonules and late-onset retinal degeneration. GeneRIF 235312