antibody

Mouse monoclonal antibody Anti-Human ASXL1

MBS120126

0.1 mg

345 USD

monoclonal

mouse

nonconjugated

2049C2a

western blot, dot blot

Antibody

Mouse monoclonal antibody Anti-Human ASXL1

ASXL1

Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), mRNA; KIAA0978; MGC71111; MGC117280

Homo sapiens additional sex combs like transcriptional regulator 1 (ASXL1), transcript variant 1, mRNA; Putative Polycomb group protein ASXL1; putative Polycomb group protein ASXL1; additional sex combs like 1; additional sex combs like transcriptional regulator 1; Additional sex combs-like protein 1

ASXL1

ASXL1; ASXL1; MDS; BOPS

ASXL1_HUMAN

Monoclonal

IgG1

2049C2a

Mouse

Human

7056

100 ug/ml (1.0 ml)

Dot Blot (DB)

Preparation: This antibody was purified using protein G column chromatography from culture supernatant of hybridoma cultured in a medium containing bovine IgG-depleted (approximately 95%) fetal bovine serum.

Sterility: Filtered through a 0.22 um membrane.

In Drosophila, the Additional sex combs (Asx) gene encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. Although the function of the protein encoded by this gene is not known, it does show some sequence similarity to the protein encoded by the Drosophila Asx gene. [NCBI Entrez Gene Summary]

257195176

NP_056153.2

NM_015338

53,374 Da

This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. The protein encoded by this gene functions as a ligand-dependent co-activator for retinoic acid receptor in cooperation with nuclear receptor coactivator 1. Mutations in this gene are associated with myelodysplastic syndromes and chronic myelomonocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

ASXL1: Probable Polycomb group (PcG) protein involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as retinoic acid receptors (RARs) and peroxisome proliferator-activated receptor gamma (PPARG). Acts as coactivator of RARA and RXRA through association with NCOA1. Acts as corepressor through recruitment of KDM1A and CBX5 to target genes in a cell-type specific manner; the function seems to involve differential recruitment of methylated histone H3 to respective promoters. Acts as corepressor for PPARG and suppresses its adipocyte differentiation-inducing activity. Non-catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at Lys-119 (H2AK119ub1). Defects in ASXL1 are the cause of Bohring-Opitz syndrome (BOPS). A syndrome characterized by severe intrauterine growth retardation, poor feeding, profound mental retardation, trigonocephaly, prominent metopic suture, exophthalmos, nevus flammeus of the face, upslanting palpebral fissures, hirsutism, and flexion of the elbows and wrists with deviation of the wrists and metacarpophalangeal joints. Defects in ASXL1 are a cause of myelodysplastic syndrome (MDS). A heterogeneous group of closely related clonal hematopoietic disorders. All are characterized by a hypercellular or hypocellular bone marrow with impaired morphology and maturation, dysplasia of the myeloid, megakaryocytic and/or erythroid lineages, and peripheral blood cytopenias resulting from ineffective blood cell production. Included diseases are: refractory anemia (RA), refractory anemia with ringed sideroblasts (RARS), refractory anemia with excess blasts (RAEB), refractory cytopenia with multilineage dysplasia and ringed sideroblasts (RCMD-RS); chronic myelomonocytic leukemia (CMML) is a myelodysplastic/myeloproliferative disease. MDS is considered a premalignant condition in a subgroup of patients that often progresses to acute myeloid leukemia (AML). Belongs to the Asx family. 2 isoforms of the human protein are produced by alternative splicing. Protein type: Nuclear receptor co-regulator; Transcription regulation. Chromosomal Location of Human Ortholog: 20q11. Cellular Component: nuclear chromatin. Molecular Function: peroxisome proliferator activated receptor binding; protein binding; DNA binding; retinoic acid receptor binding; metal ion binding; transcription coactivator activity; transcription corepressor activity. Biological Process: negative regulation of retinoic acid receptor signaling pathway; response to retinoic acid; transcription, DNA-dependent; positive regulation of retinoic acid receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter; negative regulation of fat cell differentiation. Disease: Bohring-opitz Syndrome; Myelodysplastic Syndrome

0.1 mg

345 USD