PKNOX1
Description
The PKNOX1 (PBX/knotted 1 homeobox 1) is a protein-coding gene located on chromosome 21.
PKNOX1, encoded by the PKNOX1 gene, is a human protein belonging to the TALE class of homeodomain transcription factors. It forms transcriptionally active complexes involved in development and organogenesis, playing a crucial role in embryogenesis. While essential for development, PKNOX1 also acts as a tumor suppressor in adults. It is closely related to PKNOX2.
PKNOX1 is also known as PREP1, pkonx1c.
Associated Diseases
- endometrial cancer
- reticular dysgenesis
- immunodeficiency 18
- combined immunodeficiency with skin granulomas
- hemoglobin D disease
- immunodeficiency 105
- isolated agammaglobulinemia
- short-limb skeletal dysplasia with severe combined immunodeficiency
- common variable immunodeficiency
- BENTA disease
- severe combined immunodeficiency due to LAT deficiency
- hemoglobin E disease
- lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
