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FAM161A belongs to the FAM161 family. Additionally we are shipping FAM161A Antibodies (26) and FAM161A Proteins (4) and many more products for this protein.
novel homozygous frameshift mutations of RP28-linked RP gene FAM161A in Indian population.
Exome analysis revealed a nonsense homozygous mutation in FAM161A segregating with retinal degeneration with severe vision loss and a range of disease onset and progression.
We screened a panel of 120 probands with recessive Retinitis Pigmentosa, and two were found to harbour biallelic FAM161A variants.
founder mutation in FAM161A p.(Arg437*) underlies approximately 2% of arRP cases in the Dutch and Belgian populations.
Our data indicate that mutations in FAM161A are responsible for 1% of recessive RP cases in North America, similar to the prevalence detected in Germany and unlike the data from Israel and the Palestinian territories.
Yeast two-hybrid screening of a human retinal cDNA library revealed FAM161A as a binary interaction partner of POC1B.
an RP28 (an autosomal recessive form of retinitis pigmentosa)-linked RP family in the Palestinian population caused by a novel nonsense mutation in FAM161A, was identified.
FAM161A is a novel centrosomal-ciliary protein that likely is implicated in the regulation of microtubule-based cellular processes in the retina.
FAM161A-associated RP can be considered as a novel retinal ciliopathy and that its molecular pathogenesis may be related to other ciliopathies.
FAM161A is a microtubule-associated ciliary protein presumably involved in microtubule stabilization to maintain the microtubule tracks and/or in transport processes along microtubules in photoreceptors and other retinal cell types.
Fam161a is required for the molecular delivery into the outer segment cilium, a function which is essential for outer segment disk formation and ultimately visual function.
Null mutations in FAM161A are responsible for the RP28-associated autosomal-recessive retinitis pigmentosa.
These data suggest a pivotal role for FAM161A in photoreceptors and reveal that FAM161A loss-of-function mutations are a major cause of autosomal-recessive Retinitis pigmentosa.
This gene belongs to the FAM161 family. It is expressed mainly in the retina. Mouse studies suggested that this gene is involved in development of retinal progenitors during embryogenesis, and that its activity is restricted to mature photoreceptors after birth. Mutations in this gene cause autosomal recessive retinitis pigmentosa-28. Alternatively spliced transcript variants have been identified.
, retinitis pigmentosa 28 (autosomal recessive)