Tmem67 - transmembrane protein 67

Enables misfolded protein binding activity. Involved in several processes, including photoreceptor cell outer segment organization; positive regulation of ERAD pathway; and regulation of organelle organization. Located in cytoplasmic vesicle membrane; endoplasmic reticulum membrane; and plasma membrane. Colocalizes with axoneme. Used to study Meckel syndrome 3; autosomal recessive polycystic kidney disease; communicating hydrocephalus; hydrocephalus; and proteinuria. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome (multiple); COACH syndrome; Joubert syndrome 6; Meckel syndrome 3; and nephronophthisis 11. Orthologous to human TMEM67 (transmembrane protein 67). [provided by Alliance of Genome Resources, Apr 2022]