EN2
Description
The EN2 (engrailed homeobox 2) is a protein-coding gene located on chromosome 7.
The EN2 gene encodes a homeobox protein, a type of transcription factor that plays a role in regulating gene expression. It is involved in the development of the central nervous system, particularly in the formation of the hindbrain and spinal cord. EN2 is also expressed in other tissues, including the heart, lung, and limb buds. Mutations in the EN2 gene can lead to various developmental defects, including neural tube defects and heart malformations.
EN2 is also known as -.
Associated Diseases
- pachyonychia congenita
- Joubert syndrome
- spinocerebellar ataxia type 30
- amyotrophic lateral sclerosis
- breast cancer
- spinocerebellar ataxia type 5
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
- spinocerebellar ataxia, autosomal recessive 24
- spinocerebellar ataxia type 31
- spinocerebellar ataxia type 37
