人 SMS 抗体对
01AB02450
Spermine synthase (SMS) is a cytosolic aminopropyltransferase that catalyzes the conversion of spermidine to spermine, utilizing decarboxylated S-adenosylmethionine as a donor. This reaction is critical for maintaining intracellular polyamine homeostasis, which is essential for normal cell growth and viability. Structurally, SMS functions as a homodimer, with each subunit containing a catalytic domain that exhibits high specificity for its substrates. The SMS gene is located on the X chromosome. Loss-of-function or missense mutations in SMS cause Snyder-Robinson syndrome, an X-linked intellectual disability disorder. This condition is characterized by intellectual impairment, marfanoid habitus, osteoporosis, and hypotonia. The resulting deficiency in spermine and accumulation of spermidine lead to significant developmental and neurological abnormalities.
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技术参数
- 靶点基因名
- SMS
- 蛋白别名
- spermine synthase; SMS
- UniProt
- P52788
- 物种
- Human
产品详情
- 靶点名称
- SMS
- 蛋白名称
- spermine synthase
- 蛋白别名
- Spermine synthase; SPMSY; Spermidine aminopropyltransferase
- 靶点基因名
- SMS
- UniProt
- P52788
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Spermine synthase (SMS) is a cytosolic aminopropyltransferase that catalyzes the conversion of spermidine to spermine, utilizing decarboxylated S-adenosylmethionine as a donor. This reaction is critical for maintaining intracellular polyamine homeostasis, which is essential for normal cell growth and viability. Structurally, SMS functions as a homodimer, with each subunit containing a catalytic domain that exhibits high specificity for its substrates. The SMS gene is located on the X chromosome. Loss-of-function or missense mutations in SMS cause Snyder-Robinson syndrome, an X-linked intellectual disability disorder. This condition is characterized by intellectual impairment, marfanoid habitus, osteoporosis, and hypotonia. The resulting deficiency in spermine and accumulation of spermidine lead to significant developmental and neurological abnormalities.