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重组精子发生相关蛋白5样蛋白1
交货期:1周

产品名称
Recombinant SPATA5L1
Recombinant spermatogenesis associated 5 like 1 protein
产品介绍
基因名:

SPATA5L1


产品别名:

DFNB119; NEDHLS; SPATA5L1; spermatogenesis associated 5 like 1; spermatogenesis associated 5 like 1; spermatogenesis-associated protein 5-like protein 1; 精子发生相关蛋白5样蛋白1;


背景信息:
SPATA5L1 is a 753 amino acid protein belonging to the AAA ATPase family and AFG2 subfamily. Single nucleotide polymorphisms (SNPs) present in SPATA5L1 at the glycine amidinotransferase (GATM)-SPATA5L1 locus have been found to correlate with glomerular filtration rate (GFR), having significant implications for kidney disease research. SPATA5L1 localizes to cytoplasm and exists as three alternatively spliced isoforms. The gene encoding SPATA5L1 maps to human chromosome 15q21.1. Encoding more than 700 genes, chromosome 15 is made up of approximately 106 million base pairs and comprises about 3% of the human genome. Tay-Sachs disease is a lethal disorder associated with mutations of the HEXA gene, which is encoded by chromosome 15. Marfan syndrome is associated with chromosome 15 through the FBN1 gene.
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