SAT1 Back

spermidine/spermine N1-acetyltransferase 1

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NCBI Description of SAT1

The protein encoded by this gene belongs to the acetyltransferase family, and is a rate-limiting enzyme in the catabolic pathway of polyamine metabolism. It catalyzes the acetylation of spermidine and spermine, and is involved in the regulation of the intracellular concentration of polyamines and their transport out of cells. Defects in this gene are associated with keratosis follicularis spinulosa decalvans (KFSD). Alternatively spliced transcripts have been found for this gene.

Community Annotation of SAT1 Add / Edit SAT1: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

SAT1 is highly significantly mutated in
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SAT1 is significantly mutated in
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SAT1 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


Mutation list for SAT1