Entrez gene ID | | 6303 |
Official gene symbol | | SAT1 |
Full name | | spermidine/spermine N1-acetyltransferase 1 |
Aliases | | ,DC21,KFSD,KFSDX,SAT,SSAT,SSAT-1, |
Gene summary | | 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. |
Location | | Chromosome: X Locus: Xp22.1 |
Gene position | | 23801275 - 23804327 Map Viewer |
Gene orientation | | plus |
Gene size | | 3053 bp |
Gene sequence |
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OMIM ID | | 313020 |