视黄醇脱氢酶13抗体

RDH13, also known as all-trans and 9-cis retinol dehydrogenase 13 or SDR7C3, is a 331 amino acid mitochondrial protein belonging to the short-chain dehydrogenases reductases (SDR) family. Widely expressed, mostly in eye, pancreas, placenta and lung, RDH13 localizes on the outer side of the inner mitochondrial membrane. Related to microsomal retinoid oxidoreductase RDH11, RDH13 is considered to be a major enzyme among the RDH family of proteins. Catalytically active, RDH13 recognizes retinoids as substrates and may function in retinoic acid production. RDH13 may function to protect the mitochondria against oxidative stress. Leber congenital amaurosis (LCA) type 3, an inherited autosomal recessive retinal disease, has been associated with defects of RDH13. LCA represents the most common genetic cause of congenital visual impairment in infants and children.