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A majority of prostate, pancreatic, gastric, urothelial, colorectal and cervical cancers along with few breast and ovarian cancers exhibited moderate to strong cytoplasmic immunoreactivity. Remaining malignant cells were generally negative.
GENE INFORMATION
Gene name
ALMS1 (HGNC Symbol)
Synonyms
KIAA0328
Description
Alstrom syndrome protein 1 (HGNC Symbol)
Entrez gene summary
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]