Intraflagellar transport protein 122 homolog
The IFT122 gene encodes a WD-repeat Protein which is involved in cilia function. Mutations cause autosomal recessive cranioectodermal dysplasia 1.
Genetests:
Related Diseases:
References:
1. |
Zaffanello M et al. (2006) Sensenbrenner syndrome: a new member of the hepatorenal fibrocystic family.
|
2. |
Fry AE et al. (2009) Connective tissue involvement in two patients with features of cranioectodermal dysplasia.
|
3. |
Walczak-Sztulpa J et al. (2010) Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.
|
4. |
Claudio JO et al. (1999) Cloning and expression analysis of a novel WD repeat gene, WDR3, mapping to 1p12-p13.
|
5. |
Gross C et al. (2001) Cloning and characterization of human WDR10, a novel gene located at 3q21 encoding a WD-repeat protein that is highly expressed in pituitary and testis.
|
6. |
Orphanet article
Orphanet ID 235207
|
7. |
NCBI article
NCBI 55764
|
8. |
OMIM.ORG article
Omim 606045
|
Update: Aug. 14, 2020