| Entrez Gene ID |
79809 |
| Official Gene Symbol |
TTC21B (GeneCards) |
| Full name |
tetratricopeptide repeat domain 21B |
| Location |
2q24.3 |
| Other ids |
Vega : OTTHUMG00000154083
MIM : 612014
HGNC : HGNC:25660
Ensembl : ENSG00000123607
|
| Other names |
ATD4,
THM1,
SRTD4,
IFT139,
JBTS11,
NPHP12,
IFT139B,
Nbla10696
|
| Summary |
This gene encodes a member of TTC21 family, containing several tetratricopeptide repeat (TPR) domains. This protein is localized to the cilium axoneme, and may play a role in retrograde intraflagellar transport in cilia. Mutations in this gene are associated with various ciliopathies, nephronophthisis 12, and asphyxiating thoracic dystrophy 4. [provided by RefSeq, Oct 2011] |