The tmem80 gene encodes a transmembrane protein localized to mitochondria. It is expressed during early development, particularly in stages involving neural and sensory organ formation, with expression...[+]

The tmem80 gene encodes a transmembrane protein localized to mitochondria. It is expressed during early development, particularly in stages involving neural and sensory organ formation, with expression detected in the brain, eye, otic vesicle, and pronephros. Its molecular function involves ribosome biogenesis. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD