MBTD1

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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