3ql9: Difference between revisions
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{{STRUCTURE_3ql9| PDB=3ql9 | SCENE= }} | {{STRUCTURE_3ql9| PDB=3ql9 | SCENE= }} | ||
===Monoclinic complex structure of ATRX ADD bound to histone H3K9me3 peptide=== | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/ATRX_HUMAN ATRX_HUMAN]] Defects in ATRX are the cause of alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:[http://omim.org/entry/301040 301040]]. ATR-X is an X-linked disorder comprising severe psychomotor retardation, facial dysmorphism, urogenital abnormalities, and alpha-thalassemia. An essential phenotypic trait are hemoglobin H erythrocyte inclusions.<ref>PMID:8968741</ref><ref>PMID:7697714</ref><ref>PMID:9043863</ref><ref>PMID:9326931</ref><ref>PMID:10660327</ref><ref>PMID:10417298</ref><ref>PMID:10204841</ref><ref>PMID:10995512</ref><ref>PMID:12116232</ref><ref>PMID:16955409</ref> Defects in ATRX are the cause of mental retardation syndromic X-linked with hypotonic facies syndrome type 1 (MRXSHF1) [MIM:[http://omim.org/entry/309580 309580]]; also called Carpenter-Waziri syndrome (CWS), Juberg-Marsidi syndrome (JMS), Smith-Fineman-Myers syndrome type 1 (SFM1). Clinical features include severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women. Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects.<ref>PMID:10751095</ref><ref>PMID:8630485</ref><ref>PMID:10398237</ref><ref>PMID:11050622</ref><ref>PMID:16222662</ref><ref>PMID:15565397</ref> Defects in ATRX are a cause of alpha-thalassemia myelodysplasia syndrome (ATMDS) [MIM:[http://omim.org/entry/300448 300448]]. In this disorder, alpha-thalassemia occurs as an acquired abnormality in association with a multilineage myelodysplasia.<ref>PMID:12858175</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/ATRX_HUMAN ATRX_HUMAN]] Could be a global transcriptional regulator. Modifies gene expression by affecting chromatin. May be involved in brain development and facial morphogenesis. | |||
==About this Structure== | ==About this Structure== | ||
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==See Also== | ==See Also== | ||
*[[Helicase|Helicase]] | *[[Helicase|Helicase]] | ||
==Reference== | |||
<references group="xtra"/><references/> | |||
[[Category: DNA helicase]] | [[Category: DNA helicase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
