TMEM107
Function
Plays a role in cilia formation and embryonic patterning. Requires for normal Sonic hedgehog (Shh) signaling in the neural tube and acts in combination with GLI2 and GLI3 to pattern ventral and intermediate neuronal cell types (By similarity). During ciliogenesis regulates the ciliary transition zone localization of some MKS complex proteins (PubMed:26518474).
Involvement in disease
Meckel syndrome 13
MKS13
A form of Meckel syndrome, a disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.
None
The disease is caused by variants affecting the gene represented in this entry.
Orofaciodigital syndrome 16
OFD16
A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD16 features include postaxial polydactyly of the hands and feet, multiple tongue cysts, and dysmorphic features, including frontal narrowing, short palpebral fissures, flat nasal bridge, retrognathia, and low-set ears. Neurologic features include delayed psychomotor development and severe cognitive impairment. OFD16 inheritance is autosomal recessive.
None
The disease is caused by variants affecting the gene represented in this entry.
Cellular localization
- Membrane
- Multi-pass membrane protein
- Cell projection
- Cilium
- Localizes at the transition zone, a region between the basal body and the ciliary axoneme.
Alternative names
DC20, UNQ638/PRO1268, TMEM107, Transmembrane protein 107