. 2008 Jan 14;180(1):17–21. doi: 10.1083/jcb.200710085

Table I. Human ciliary disease genes and their cell biological functions.

Disease	Gene	Cellular function	Protein localization
PKD	PKD1	Mechanosensing	Cilia
	PKHD1	Unknown	Cilia, basal body
Immotile cilia syndrome	DNAH5	Ciliary motility	Outer dynein arms
Bronchiectasis	DNAI1	Ciliary motility	Outer dynein arms
Chronic sinusitis
Situs inversus
Bardet-Biedl syndrome	BBS1-12	Ciliogenesis	Basal body and IFT complexes
Obesity
Retinal degeneration
Cystic kidneys
Meckel-Gruber syndrome	Cep290	Unknown	Basal body
Brain malformation	MKS1	Ciliogenesis	Basal body
Polydactyly	MKS3	Ciliogenesis	Ciliary membrane
Cystic kidneys
Oral-Facial-Digital syndrome	OFD1	Ciliogenesis	Basal body
Craniofacial abnormality
Polydactyly
Cystic kidneys
Nephronophthisis	NPHP1-5	Uncertain	Basal body and cilia
Retinitis pigmentosa	RPGR	Retinal transport	Basal body
Situs inversus	DNAH11	Ciliary motility	Dynein arms