1/100 - 1/500. Perform heat mediated antigen retrieval with citrate buffer pH 6 before commencing with IHC staining protocol. or Tris-EDTA buffer (pH 8.0)
Required for cilia formation and Shh signaling during neuronal patterning.
Expressed in many tissues. Predominant expression in testis and pituitary.
Involvement in disease
Defects in IFT122 are a cause of cranioectodermal dysplasia type 1 (CED1) [MIM:218330]. CED1 is 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.