ATRX

Cilia effects upon perturbation of ATRX

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:

alpha thalassemia-X-linked intellectual disability syndrome; Alpha-thalassemia - X-linked intellectual disability syndrome; intellectual disability-hypotonic facies syndrome, X-linked, 1; X-linked intellectual disability - hypotonic face; adrenal cortex carcinoma; alpha thalassemia-intellectual disability syndrome type 1

Ciliopathy associations

• Carpenter Syndrome

Subcellular localization

cilia associated gene, nuclear bodies

Functional category

• Metabolism; Trafficking (BBSome, small GTPases, vesicular transport, ATPases)

Function

ATRX is not a classical primary ciliopathy gene but shows strong mechanistic links to ciliary pathways, centrosome biology, and Shh signaling, and can produce Carpenter-like ciliopathy phenotypes (PMID: 34348791, PMID: 11449489).