DISEASES

Disease-gene associations mined from literature

Literature associating TTC21B and short-rib thoracic dysplasia 6 with or without polydactyly

TTC21B [ENSP00000243344]

Tetratricopeptide repeat protein 21B; Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein- coupled receptors (GPCRs). Essential for retrograde trafficking of IFT- 1, IFT-B and GPCRs . Negatively modulates the SHH signal transduction (By similarity); Belongs to the TTC21 family.

Synonyms:  TTC21B,  TTC21Bp,  hTTC21B,  A0A494C0N4,  H9KV93 ...

Linkouts:  STRING  Pharos  UniProt  OMIM