OSGEPL1 Rabbit anti-Human, Mouse, Polyclonal, Proteintech

Beschreibung

OSGEPL1, also known as Qri7, is a 414 amino acid protein that belongs to the KAE1/YgjD family and exists as 3 alternatively spliced isoforms. In tRNAs that have codons beginning with adenine, OSGEPL1 is required for the formation of a threonylcarbamoyl group on adenosine. The gene that encodes OSGEPL1 contains about 16,568 bases and maps to human chromosome 2q32.2. Consisting of 237 million bases, chromosome 2 encodes over 1,400 genes and makes up approximately 8% of the human genome. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare and morbid skin deformity, is associated with mutations in the ABCA12 gene. The lipid metabolic disorder sitosterolemia is associated with ABCG5 and ABCG8. An extremely rare recessive genetic disorder, Alstrom syndrome, is due to mutations in the ALMS1 gene