功能： disease:Defects in HOXA11 are the cause of radioulnar synostosis with amegakaryocytic thrombocytopenia [MIM:605432]. The syndrome consists of an unusual association of bone marrow failure and skeletal defects. Patients have the same skeletal defects, the proximal fusion of the radius and ulna, resulting in extremely limited pronation and supination of the forearm. Some patients have also symptomatic thrombocytopenia, with bruising and bleeding problems since birth, necessitating correction by bone marrow or umbilical-cord stem-cell transplantation.,function:Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.,similarity:Belongs to the Abd-B homeobox family.,similarity:Contains 1 homeobox DNA-binding domain.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Nucleus.
组织表达： Ovary,
科研货号： PLA006632
HXA11 Polyclonal Antibody
Catalog NoPLA006632
Product information
基因名称： HOXA11 HOX1I
蛋白名称： Homeobox protein Hox-A11 (Homeobox protein Hox-1I)
功能： disease:Defects in HOXA11 are the cause of radioulnar synostosis with amegakaryocytic thrombocytopenia [MIM:605432]. The syndrome consists of an unusual association of bone marrow failure and skeletal defects. Patients have the same skeletal defects, the proximal fusion of the radius and ulna, resulting in extremely limited pronation and supination of the forearm. Some patients have also symptomatic thrombocytopenia, with bruising and bleeding problems since birth, necessitating correction by bone marrow or umbilical-cord stem-cell transplantation.,function:Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.,similarity:Belongs to the Abd-B homeobox family.,similarity:Contains 1 homeobox DNA-binding domain.,
在线咨询
湘公网安备