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.[provided by RefSeq, Sep 2009]
人 SAT1 (NM_002970) cDNA克隆
| Accession: | NM_002970 |
|---|---|
| 基因名称: | SAT1 |
| 基因别名: | SAT; DC21; KFSD; SSAT; KFSDX; SSAT-1 |
| 基因描述: | Homo sapiens spermidine/spermine N1-acetyltransferase 1 (SAT1), transcript variant 1, mRNA. |
| 种属: | Human |
| CDS区长度: | 516 (查看编码区序列) |
| 翻译后氨基酸长度: | 171 (查看氨基酸序列) |
| Transcript Variant: | This variant (1) represents the protein coding transcript. |
| 人 SAT1 (NM_002970) cDNA克隆 | transcript variant 1 |
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