NP_055935.4
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
425,349 Da
NCBI Official Full Name
Alstrom syndrome protein 1
NCBI Official Synonym Full Names
ALMS1, centrosome and basal body associated protein
NCBI Official Synonym Symbols
NCBI Protein Information
Alstrom syndrome protein 1
UniProt Protein Name
Alstrom syndrome protein 1
UniProt Synonym Gene Names
NCBI Summary for ALMS1
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]
UniProt Comments for ALMS1
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.
Product References and Citations for anti-ALMS1 antibody
(1) Hearn, T., Renforth, G.L., Spalluto, C., et al.Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome.Nat. Genet. 31 (1), 79-83 (2002).
Research Articles on ALMS1
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Products associated with anti-ALMS1 antibody
Pathways associated with anti-ALMS1 antibody
Diseases associated with anti-ALMS1 antibody
Organs/Tissues associated with anti-ALMS1 antibody
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