GeneID: 472

Description:
The protein encoded by this gene contains an ATPase/helicase domain that identifies it as a member of the switch/sucrose non-fermentable (SWI-SNF) protein family. SWI-SNF proteins have an important chromatin remodelling function and participate in several biological processes, such as DNA recombination and repair, transcriptional regulation, and remodeling of nucleosomes. Mutations of ATRX gene give rise to the Alpha Thalassemia/mental Retardation syndrome X-linked (ATRX), a rare X-linked dominant disorder characterized by intellectual disability, facial dysmorphism, urogenital dysfunction, skeletal abnormalities and reduced expression of the α-globin genes (α-thalassemia). Specifically, α-globin gene expression can be down-regulated to different degrees, mainly reflected in different proportions of red cells containing hemoglobin H inclusion and microcytic hypochromic anemia. ATRX is an alternate molecular basis of α-thalassemia disease.

Synonyms: JMS , XH2 , XNP , MRX52 , RAD54 , RAD54L , ZNF-HX

Comments:
N/A

Number of entries/variants: 0

1. Wu S, Zheng Y, Xu C, Fu J, Xiong F, Yang F, A Novel Mutation in ATRX Causes Alpha-Thalassemia X-Linked Intellectual Disability Syndrome in a Han Chinese Family., Front Pediatr, 9(0), 811812, 2021 PubMed
2. Valenzuela M, Amato R, Sgura A, Antoccia A, Berardinelli F, The Multiple Facets of ATRX Protein., Cancers (Basel), 13(9), , 2021 PubMed