PTCD3 polyclonal antibody

PTCD3 (Pentatricopeptide repeat domain 3), also known as TRG15 (Transformation-related gene 15 protein), is a 689 amino acid protein that contains 10 PPR (pentatricopeptide) repeats and belongs to the PTCD3 family. Localized to the mitochondrion, PTCD3 is encoded by a gene that maps to chromosome 2 and is expressed as two alternatively spliced isoforms. The second largest human chromosome, chromosome 2 encodes over 1,400 genes and comprises nearly 8% of the human genome, housing a number of disease-associated genes. Harlequin icthyosis, a rare and morbid skin deformity, is associated with mutations in the ABCA12 gene, while the lipid metabolic disorder sitosterolemia is associated with defects in the ABCG5 and ABCG8 genes. Additionally, an extremely rare recessive genetic disorder, Alström syndrome, is caused by mutations in the ALMS1 gene, which maps to chromosome 2.