HOXA11
Description
The HOXA11 (homeobox A11) is a protein-coding gene located on chromosome 7.
HOXA11 is a human gene that encodes a homeobox protein called Hox-A11. Homeobox genes are a class of transcription factors that are crucial for embryonic development. HOXA11 is part of the A cluster on chromosome 7 and plays a significant role in regulating uterine development and female fertility. Mutations in this gene can lead to radioulnar synostosis (fusion of the radius and ulna bones) and amegakaryocytic thrombocytopenia (a deficiency in platelets). HOXA11 is involved in gene expression, morphogenesis, and differentiation, and is essential for establishing the correct positioning of cells along the anterior-posterior axis during embryonic development.
HOXA11 is also known as HOX1, HOX1I, RUSAT1.
Associated Diseases
- Radioulnar synostosis with amegakaryocytic thrombocytopenia
- Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
