HOXA11
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.
Involvement in disease
Radioulnar synostosis with amegakaryocytic thrombocytopenia 1
RUSAT1
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the Abd-B homeobox family.
Cellular localization
- Nucleus
Alternative names
HOX1I, HOXA11, Homeobox protein Hox-A11, Homeobox protein Hox-1I