甘氨酸脒基转移酶，线粒体 (EC 2.1.4.1) (L-精氨酸:甘氨酸脒基转移酶) (转脒基酶)
甘氨酸脒基转移酶，线粒体 (EC 2.1.4.1) (L-精氨酸:甘氨酸脒基转移酶) (转脒基酶)
P50440功能描述
转脒基酶，催化L-精氨酸的脒基转移至受体代谢物（如甘氨酸、β-丙氨酸、γ-氨基丁酸(GABA)和牛磺酸）的氨基上，生成相应的胍基衍生物 (PubMed:16820567, PubMed:27233232, PubMed:36543883, PubMed:3800397)。催化肌酸生物合成的限速步骤，即将L-精氨酸的脒基转移至甘氨酸以生成胍基乙酸，随后胍基乙酸被GAMT甲基化形成肌酸。为高能量需求的组织，特别是骨骼肌、心脏和大脑，提供作为ATP生成来源的肌酸 (Probable) (PubMed:27233232, PubMed:36543883, PubMed:3800397, PubMed:9266688)。 {ECO:0000269|PubMed:16820567, ECO:0000269|PubMed:27233232, ECO:0000269|PubMed:36543883, ECO:0000269|PubMed:3800397, ECO:0000269|PubMed:9266688, ECO:0000305|PubMed:16820567}。
组织特异性
Expressed in brain, heart, kidney, liver, lung, salivary gland and skeletal muscle tissue, with the highest expression in kidney. Biallelically expressed in placenta and fetal tissues.
亚细胞定位
[Isoform 1]: Mitochondrion inner membrane; Peripheral membrane protein; Intermembrane side. Note=Probably attached to the outer side of the inner membrane.; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm.
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