Aliases for ALMS1 Gene
External Ids for ALMS1 Gene
Previous GeneCards Identifiers for ALMS1 Gene
This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of chromosome 2. Alternative splice variants have been described but their full length nature has not been determined. [provided by RefSeq, Apr 2014]
GeneCards Summary for ALMS1 Gene
ALMS1 (ALMS1 Centrosome And Basal Body Associated Protein) is a Protein Coding gene. Diseases associated with ALMS1 include Alstrom Syndrome and Leukodystrophy. Among its related pathways are Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition. An important paralog of this gene is CEP295.
UniProtKB/Swiss-Prot Summary for ALMS1 Gene
Involved in PCM1-dependent intracellular transport. Required, directly or indirectly, for the localization of NCAPD2 to the proximal ends of centrioles. Required for proper formation and/or maintenance of primary cilia (PC), microtubule-based structures that protrude from the surface of epithelial cells.