across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. ...
Gene SummaryThe protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only fun...
Gene Summary The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only ...
该基因编码的蛋白质催化精氨酸生物合成途径的倒数第二步。这个基因大约有10到14个拷贝,包括散布在人类基因组中的假基因,其中9号染色体上的一个似乎是精氨酸琥珀酸合成酶的唯一功能基因。该基因9号染色体拷贝突变引起瓜氨酸血症。两个编码相同蛋白质的转录变体被发现用于这个基因。 The protein encoded by this gene c...
Gene ID: 445 种属 Homo sapiens DNA序列编号: NM_000050.4 DNA描述 Homo sapiens argininosuccinate synthase 1 (ASS1), transcript variant 1, mRNA DNA大小: 1863 bp DNA编码区: atgtccagcaaaggctccgtggttctggcctacagtggcggcctggacacctcgtgcatc ctcgtgtggctgaaggaacaaggctatgacgtcattgcctatctggccaacattggccag ...
这个基因大约有10到14个拷贝,包括散布在人类基因组中的假基因,其中9号染色体上的一个似乎是精氨酸琥珀酸合成酶的唯一功能基因。该基因9号染色体拷贝突变引起瓜氨酸血症。两个编码相同蛋白质的转录变体被发现用于这个基因。The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic...
2009. Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene. Hum Mutat 30: 300-307.Engel K;Hohne W;Haberle J.Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.,2009Engel K, Hohne W, Haberle J. Mutations and polymorphisms in the ...
ASS1/SMAD6 FISH Probe KitCat NoCT-PAC171 瓜胺酸血症 & 其他癌症检测试剂套组 The ASS1/SMAD6 FISH Probe Kit is designed to detect the humanASS1gene located on chromosome band 9q34.11, and theSMAD6gene on chromosome band 15q22.31. Abnormal expression of theASS1gene – also calledASSorCTLN1...
The ASS1/CCP9 FISH Probe Kit is designed to detect the human ASS1 gene located on chromosome band 9q34.11, along with the number of chromosome 9 copies per cell. Abnormalities in ASS1 –also called ASS or CTLN1 –occur in citrullinemia type I (CTLN1), also known as classic citrulline...
ASS1 and ASL generate fumarate for the succination ofSMARCC1, destabilizing the chromatin-remodeling complex SMARCC1–SNF5to decrease gene transcription, specifically in a subset of the p53-regulated cell cycle genes. Thus, following DNA damage, ASS1 is part of the p53 network that pauses cell ...