NKX6-2
Description
The NKX6-2 (NK6 homeobox 2) is a protein-coding gene located on chromosome 10.
The human NKX6-2 gene encodes the Homeobox protein Nkx-6.2, a transcription factor involved in the development and function of the nervous system. It is located on chromosome 10. During embryonic development, NKX6-2 is expressed in the fetal brain, ventral neural tube, and developing spinal cord. In adults, it continues to be expressed in the brain and germ cells of the testes. NKX6-2 plays a vital role in the patterning of the central nervous system and has been linked to oligodendrocyte maturation. It is also crucial for motor function through spinal neuronal circuits. Mutations in the NKX6-2 gene have been associated with Spastic Ataxia, a neurological disorder characterized by impaired learning, movement difficulties, and a hypomyelinated nervous system. Additionally, methylation of NKX6-2 has been correlated with renal cancer metastasis.
NKX6-2 is also known as GTX, NKX6.2, NKX6B, SPAX8.
Associated Diseases
- Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
- NKX6-2-related autosomal recessive hypomyelinating leukodystrophy
