ALMS1 protein (Alstrom syndrome protein 1, KIAA0328)
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Function
- intracellular trafficking
- involved in insulin resistance syndrome
- phosphorylated upon DNA damage, probably by ATM or ATR
Compartment
- cytoplasm
- centrosome
- basal body at the base of primary cilia
- during mitosis localizes to spindle poles
Alternative splicing
named isoforms=3
Expression
- expressed in all tissues tested including adipose tissue & pancreas
- expressed by beta-cells of the islets in the pancreas (at protein level)
- widely expressed in fetal tissues
- detected in fetal pancreas, skeletal muscle, liver, kidney & brain (at protein level)
- expressed in fetal aorta & brain
Pathology
- mutations associated with Alstrom syndrome 1
More general terms
Additional terms
References
- ↑ 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
- ↑ 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
- ↑ UniProt http://www.uniprot.org/uniprot/Q8TCU4.html
- ↑ GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/ALMS1