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 |
| 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 |
For reviews of human ciliopathies, see Afzelius, 2004; Badano et al., 2006; Fliegauf, 2007.