MBTD1
Description
The MBTD1 (mbt domain containing 1) is a protein-coding gene located on chromosome 17.
MBTD1 is a protein in humans that is encoded by the MBTD1 gene. The gene is also known as SA49P01.
MBTD1 is a chromatin reader that is part of the NuA4 histone acetyltransferase complex, which plays a role in transcriptional activation and DNA repair. It specifically recognizes and binds to monomethylated and dimethylated Lys-20 on histone H4 (H4K20me1 and H4K20me2). MBTD1 helps recruit the NuA4 complex to these marks by competing with TP53BP1. Once recruited, NuA4 acetylates Lys-15 on histone H2A (H2AK15), blocking the ubiquitination mark needed for TP53BP1 localization and promoting homologous recombination.
MBTD1 is also known as SA49P01.
Associated Diseases
- isolated asymptomatic elevation of creatine phosphokinase
- autosomal recessive spondylocostal dysostosis
- pentosuria
- autosomal dominant spondylocostal dysostosis
- cholesterol-ester transfer protein deficiency
- hypertriglyceridemia 2
- myopathy due to calsequestrin and SERCA1 protein overload
- metabolic myopathy due to lactate transporter defect
- kyphomelic dysplasia
- sitosterolemia
- homozygous familial hypercholesterolemia
- heart defects-limb shortening syndrome
- thyroid hormone metabolism, abnormal, 2
- spondyloepimetaphyseal dysplasia with joint laxity
- osteogenesis imperfecta type 3
- thoracolaryngopelvic dysplasia
- mesomelic dysplasia, Kantaputra type
