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ATRX alpha thalassemia/mental retardation syndrome X-linked [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000489 Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand TBD TBD
NM_138270 Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand TBD TBD

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Gene Symbol ATRX
Entrez Gene ID 546
Full Name alpha thalassemia/mental retardation syndrome X-linked
Synonyms ATR2, JMS, MGC2094, MRXHF1, RAD54, RAD54L, SFM1, SHS, XH2, XNP, ZNF-HX
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

X

Xq21.1

Summary The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. The mutations of this gene are associated with an X-linked mental retardation (XLMR) syndrome most often accompanied by alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008].
Disorder

MIM: 300032

Alpha-thalassemia/mental retardation syndrome, 301040 (3);

mRNA Protein Product Sequence Price Select
NM_000489, 130979463 NP_000480, 20336209 transcriptional regulator ATRX isoform 1 ORF Sequence $3500.00
NM_138270, 130979649 NP_612114, 20336205 transcriptional regulator ATRX isoform 2 ORF Sequence $3500.00
Homo sapiens (human)ATRXNP_000480.2
Pan troglodytes (chimpanzee)ATRXNP_001009018.1
Macaca mulatta (Rhesus monkey)ATRXXP_001099874.1
Canis lupus familiaris (dog)ATRXXP_538084.2
Bos taurus (cattle)ATRXXP_002700028.1
Mus musculus (house mouse)AtrxNP_033556.2
Rattus norvegicus (Norway rat)AtrxNP_001099227.1
Gallus gallus (chicken)ATRXXP_420305.3
Danio rerio (zebrafish)atrxNP_956947.2
Drosophila melanogaster (fruit fly)XNPNP_733107.1
Caenorhabditis elegansxnp-1NP_001020958.1
GeneCards ATRX
PDB 3QLC, 3QL9, 3QLN, 2LD1, 3QLA, 2JM1, 2LBM
UniProt P46100
MIM 300032
Ensembl ENSG00000085224
HGNC 886
HPRD 02069

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
transcriptional regulator ATRX
Names
transcriptional regulator ATRX
RAD54 homolog
X-linked helicase II
Zinc finger helicase
helicase 2, X-linked
X-linked nuclear protein
ATP-dependent helicase ATRX
DNA dependent ATPase and helicase
alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae)
NP_000480.2
NP_612114.1

Interactant



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