NUDT16L1
Description
The NUDT16L1 (nudix hydrolase 16 like 1) is a protein-coding gene located on chromosome 16.
NUDT16L1, also known as TIRR, is a key regulator of TP53BP1, a protein involved in DNA repair. In the absence of DNA damage, NUDT16L1 interacts with TP53BP1, blocking its recruitment to chromatin by masking the region that binds to histone H4K20me2. Following DNA damage, ATM-induced phosphorylation of TP53BP1 and recruitment of RIF1 disrupts the NUDT16L1/TP53BP1 interaction, allowing TP53BP1 to bind to DNA double-strand breaks. NUDT16L1 also binds to U8 snoRNA.
NUDT16L1 is also known as SDOS, TIRR.
Associated Diseases
- Parkinson disease
- lysosomal storage disease
- multiple sclerosis
- Alzheimer disease
- essential hypertension
- isolated asymptomatic elevation of creatine phosphokinase
- pentosuria
- cholesterol-ester transfer protein deficiency
- hypertriglyceridemia 2
- myopathy due to calsequestrin and SERCA1 protein overload
- sitosterolemia
- homozygous familial hypercholesterolemia
- thyroid hormone metabolism, abnormal, 2
- metabolic myopathy due to lactate transporter defect
- congenital analbuminemia
- familial apolipoprotein C-II deficiency
- cancer
