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Alstrom syndrome 1

This gene encodes a protein containing a large tandem-repeat domain. The mouse ortholog of this gene has been shown to function in ciliogenesis in inner medullary collecting duct cells. Mutations in this gene have been associated with Alstrom syndrome. Alternative splice variants have been described but their full length sequences have not been determined.[provided by RefSeq, Mar 2009] (from NCBI)
Papers on ALMS1
The Alström syndrome protein, ALMS1, interacts with α-actinin and components of the endosome recycling pathway.
Naggert et al., Bar Harbor, United States. In Plos One, 2011
a role for ALMS1 variants in the recycling endosome pathway
Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.
Chen et al., Houston, United States. In Hum Mutat, 2011
in a set of consanguineous patient families with Leber congenital amaurosis study identified five putative disease-causing mutations, including four novel alleles, in six families; These five mutations are located in four genes, ALMS1, IQCB1, CNGA3, and MYO7A
Alström Syndrome protein ALMS1 localizes to basal bodies of cochlear hair cells and regulates cilium-dependent planar cell polarity.
Forge et al., London, United Kingdom. In Hum Mol Genet, 2011
investigated the role of ALMS1 in the cochlea and the pathogenesis of hearing loss in Alstrom Syndrome
ALMS1-deficient fibroblasts over-express extra-cellular matrix components, display cell cycle delay and are resistant to apoptosis.
Vettor et al., Padova, Italy. In Plos One, 2010
ALMS1-deficient fibroblasts showed a constitutively activated myofibroblast phenotype even if they do not derive from a fibrotic lesion.
Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731.
Hearn et al., Southampton, United Kingdom. In Mol Biol Cell, 2010
data suggest centrosomal functions for C10orf90 and KIAA1731 and new centriole-related functions for ALMS1
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