TKTL1
Description
The TKTL1 (transketolase like 1) is a protein-coding gene located on chromosome X.
TKTL1 is a gene closely related to the transketolase gene (TKT) that emerged in mammals during evolution. It is considered a key gene that distinguishes modern humans from Neanderthals. TKTL1 forms a heterodimer with TKT, resulting in a significant increase in ribose-5-phosphate production in cells. This also allows for the formation of acetyl-CoA, essential for lipid and steroid synthesis. TKTL1 provides ribose, the building block for DNA synthesis, enabling cell cycle control and execution.
TKTL1 is also known as TKR, TKT2.
Associated Diseases
- cancer
- inflammatory bowel disease 1
- inflammatory bowel disease 30
- nonpapillary renal cell carcinoma
- cryopyrin-associated periodic syndrome
- immunodeficiency due to MASP-2 deficiency
- Hirschsprung disease
- familial visceral myopathy
- laryngeal carcinoma