Gene Symbol | TTC21B |
Entrez Gene ID | 79809 |
Full Name | tetratricopeptide repeat domain 21B |
Synonyms | ATD4,IFT139,IFT139B,JBTS11,NPHP12,Nbla10696,SRTD4,THM1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Nephronophthisis 12, 613820 (3); Short-rib thoracic dysplasia 4 with or without polydactyly, 613819 (3) |