SPATA5L1 Polyclonal Antibody, APC Conjugated

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.