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)
功能Required for cilia formation and Shh signaling during neuronal patterning.
组织特异性Expressed in many tissues. Predominant expression in testis and pituitary.
疾病相关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.