Automated description from the Alliance of Genome Resources (Release 7.4.0)
Predicted to enable filamin binding activity; misfolded protein binding activity; and unfolded protein binding activity. Involved in several processes, including epithelial tube branching involved in lung morphogenesis; negative regulation of centrosome duplication; and non-canonical Wnt signaling pathway. Acts upstream of or within determination of left/right symmetry; heart development; and kidney development. Located in cytoplasmic vesicle membrane and endoplasmic reticulum membrane. Part of MKS complex. Is expressed in diencephalon; hindbrain lateral wall; metanephros; and organ of Corti. Used to study Joubert syndrome 6; Meckel syndrome; cystic kidney disease; and visceral heterotaxy. Human ortholog(s) of this gene implicated in several diseases, including Bardet-Biedl syndrome (multiple); COACH syndrome; Joubert syndrome 6; Meckel syndrome 3; and nephronophthisis (multiple). Orthologous to human TMEM67 (transmembrane protein 67).
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