基因名称(Gene Name)
HMGA2 HMGIC
蛋白名称
High mobility group protein HMGI-C (High mobility group AT-hook protein 2)
组成
PBS, 50% glycerol, 0.05% Proclin 300, 0.05%BSA
来源
Monoclonal, Rabbit,IgG
稀释比例
IHC 1:200-1:1000; WB 1:2000-1:10000; IF 1:200-1:1000; ELISA 1:5000-1:20000; Note: For IHC, we suggest antigen retrieval with TE buffer pH 9.0
储存
-15°C to -25°C/1 year(Do not lower than -25°C)
背景
This gene encodes a protein that belongs to the non-histone chromosomal high mobility group (HMG) protein family. HMG proteins function as architectural factors and are essential components of the enhancesome. This protein contains structural DNA-binding domains and may act as a transcriptional regulating factor. Identification of the deletion, amplification, and rearrangement of this gene that are associated with myxoid liposarcoma suggests a role in adipogenesis and mesenchymal differentiation. A gene knock out study of the mouse counterpart demonstrated that this gene is involved in diet-induced obesity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008],
功能
developmental stage:Expressed predominantly during embryogenesis.,Disease:A chromosomal aberration involving HMGA2 is associated with a subclass of benign mesenchymal tumors known as lipomas. Translocation t(3;12)(q27-q28;q13-q15) with LPP is shown in lipomas. HMGA2 is also fused with a number of other genes in lipomas.,Disease:A chromosomal aberration involving HMGA2 is associated with parosteal lipomas. Translocation t(3;12)(q28;q14) with LPP is also shown in one parosteal lipoma.,Disease:A chromosomal aberration involving HMGA2 is associated with pulmonary chondroid hamartomas. Translocation t(3;12)(q27-q28;q14-q15) with LPP is detected in pulmonary chondroid hamartomas.,Disease:A chromosomal aberration involving HMGA2 is found in uterine leiomyoma (UL) [MIM:150699]. Translocation t(12;14)(q15;q23-24) with RAD51L1. Chromosomal rearrangements involving HMGA2 do not seem to be the principle pathobiological mechanism in uterine leiomyoma.,Function:Functions as a transcriptional regulator. Functions in cell cycle regulation through CCNA2.,polymorphism:Genetic variation in HMGA2 has been associated with stature as a quantitative trait (STQTL9) [MIM:611547]. Human height is a classic, highly heritable quantitative trait.,PTM:Regulated by cell cycle-dependent phosphorylation which alters its DNA binding affinity.,similarity:Belongs to the HMGA family.,similarity:Contains 3 A.T hook DNA-binding domains.,subunit:Interacts with E4F1.,
