其他名称: HOXA11; HOX1I; Homeobox protein Hox-A11; Homeobox protein Hox-1I; HOXD11; HOX4F; Homeobox protein Hox-D11; Homeobox protein Hox-4F
实测条带: 28kD
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.,
其他名称: HOXA11; HOX1I; Homeobox protein Hox-A11; Homeobox protein Hox-1I; HOXD11; HOX4F; Homeobox protein Hox-D11; Homeobox protein Hox-4F
实测条带: 28kD
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.,