ALMS1 protein (Alstrom syndrome protein 1, KIAA0328)

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Function

Compartment

Alternative splicing

named isoforms=3

Expression

Pathology

More general terms

Additional terms

References

  1. Collin GB et al Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome. Nature genetics 31:74-78, 2002 PMID: https://www.ncbi.nlm.nih.gov/pubmed/11941
  2. Hearn T et al Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome. Nature genetics 31:79-83, 2002 PMID: https://www.ncbi.nlm.nih.gov/pubmed/11941370
  3. UniProt http://www.uniprot.org/uniprot/Q8TCU4.html
  4. GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/ALMS1

Database