IFT122
Domain
Forms the trimeric core subcomplex IFT122WDR19 via the C-terminal region, whereas it interacts with IFT43:WDR35 via the N-terminal region containing the WD repeats.
Function
As a 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), it is required in ciliogenesis and ciliary protein trafficking (PubMed:27932497, PubMed:29220510). Involved in cilia formation during neuronal patterning. Acts as a negative regulator of Shh signaling. Required to recruit TULP3 to primary cilia (By similarity).
Involvement in disease
Cranioectodermal dysplasia 1
CED1
A disorder characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include dolichocephaly (with or without sagittal suture synostosis), scaphocephaly, short stature, limb shortening, short ribs, narrow chest, brachydactyly, renal failure and hepatic fibrosis, small and abnormally shaped teeth, sparse hair, skin laxity and abnormal nails.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Expressed in many tissues. Predominant expression in testis and pituitary.
Cellular localization
- Cell projection
- Cilium
- Cytoplasm
- Cytoskeleton
- Cilium basal body
- Localizes to photoreceptor connecting cilia.
Alternative names
SPG, WDR10, WDR140, IFT122, Intraflagellar transport protein 122 homolog, WD repeat-containing protein 10, WD repeat-containing protein 140