NKX6-1

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Description

The NKX6-1 (NK6 homeobox 1) is a protein-coding gene located on chromosome 4.

NKX6-1 is a gene that encodes a protein known as Homeobox protein Nkx-6.1. This protein is essential for the development of beta cells in the pancreas, acting as a potent bifunctional transcription regulator. It binds to AT-rich sequences within the promoter region of target genes, controlling their expression.

NKX6-1 acts as a transcription factor, binding to specific A/T-rich DNA sequences within the promoter regions of various genes. It plays a crucial role in the development of insulin-producing beta cells in the islets of Langerhans, particularly during the secondary transition phase. Additionally, NKX6-1 collaborates with NKX2-2 and IRX3 to regulate the formation of motor neurons, ensuring they develop in the correct regions of the neural tube. This protein belongs to the class II proteins of neuronal progenitor factors, which are activated by SHH signals.

NKX6-1 is also known as NKX6.1, NKX6A.

Associated Diseases

• type 2 diabetes mellitus
• amyotrophic lateral sclerosis
• hyperinsulinemic hypoglycemia, familial, 2
• exercise-induced hyperinsulinism
• annular pancreas
• hereditary neuropathy with liability to pressure palsies
• hyperinsulinemic hypoglycemia, familial, 1
• pancreatic agenesis 2
• hyperinsulinism-hyperammonemia syndrome
• hereditary chronic pancreatitis
• Charcot-Marie-Tooth disease type 1A