The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Application notesIHC-P: 1/100 - 1/500. Epitope exposure is recommended. Exposure with citrate buffer will enhance staining.
Likely to work with frozen sections.
Not yet tested in other applications.
Optimal dilutions/concentrations should be determined by the end user.
FunctionCould be a global transcriptional regulator. Modifies gene expression by affecting chromatin. May be involved in brain development and facial morphogenesis.
Involvement in diseaseDefects in ATRX are the cause of alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM: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. Defects in ATRX are the cause of mental retardation syndromic X-linked with hypotonic facies syndrome type 1 (MRXSHF1) [MIM: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. Defects in ATRX are a cause of alpha-thalassemia myelodysplasia syndrome (ATMDS) [MIM:300448]. In this disorder, alpha-thalassemia occurs as an acquired abnormality in association with a multilineage myelodysplasia.
DomainContains one Pro-Xaa-Val-Xaa-Leu (PxVxL) motif, which is required for interaction with chromoshadow domains. This motif requires additional residues -7, -6, +4 and +5 of the central Val which contact the chromoshadow domain.
Post-translational modificationsPhosphorylated upon DNA damage, probably by ATM or ATR.
Cellular localizationNucleus. Associated with pericentromeric heterochromatin during interphase and mitosis, probably by interacting with HP1.