The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Protein concentration is above or equal to 0.05 mg/ml.
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Preparation and Storage
Stability and Storage
Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.
pH: 8.00 Constituents: 0.31% Glutathione, 0.79% Tris HCl
Intraflagellar transport 122 homolog (Chlamydomonas)
Intraflagellar transport protein 122 homolog
WD repeat domain 10
WD repeat-containing protein 10
WD repeat-containing protein 140
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.