Their comparative analysis showed that ATRX is a member of the SNF2-like subgroup of a superfamily of proteins with similar ATPase and helicase domains (see 300012).
The N-terminal region contains a nuclear localization signal and antibody studies indicated a nuclear localization of the protein.
In situ hybridization studies in the mouse revealed precocious, widespread expression of the murine homolog of XH2 at early stages of embryogenesis, and more restricted expression during late developmental stages and at birth.
(1998) suspected that the XNP protein is somehow involved in regulation of gene expression.
Genetic and biochemical studies had led to the emerging concept that SNF2-like proteins are components of a large protein complex that may exert its functions by modulating chromatin structure. (1998) performed a yeast 2-hybrid analysis with XNP and several human heterochromatin-associated proteins.
They showed that the murine homolog maps to the homologous genetic interval between Pgk1 and Xist. (1995) showed that mutations in the XH2 gene cause the alpha-thalassemia/mental retardation syndrome (ATR-X; 301040), an X-linked disorder comprising severe psychomotor retardation, characteristic facial features, genital abnormalities, and alpha-thalassemia.
XH2 is a member of a subgroup of the helicase superfamily that includes proteins involved in a wide range of cellular functions, including DNA recombination and repair (e.g., ERCC6; 609413) and transcription regulation.
One of these alternatively spliced transcripts is expressed predominantly in embryonic tissues. (1996), to identify a cysteine-rich motif, similar to a putative zinc finger domain (cys4-his-cys3), called the PHD finger.