IGHMBP2 : immunoglobulin mu DNA binding protein 2
Description
The IGHMBP2 (immunoglobulin mu DNA binding protein 2) is a protein-coding gene located on chromosome 11.
The IGHMBP2 gene provides instructions for making an enzyme called immunoglobulin mu DNA binding protein 2 (IGHMBP2). This enzyme functions as a helicase, which means that it attaches to particular regions of DNA and temporarily unwinds the two spiral strands of these molecules. When a cell prepares to divide to form two cells, the chromosomes are duplicated (replicated) so that each new cell will get a complete set of chromosomes. The replication process involves unwinding the DNA so that it can be copied. This mechanism is also involved in the production of RNA, a chemical cousin of DNA. Additionally, the IGHMBP2 protein is thought to be involved in the production of proteins from RNA through a process called translation. The IGHMBP2 protein is produced in cells throughout the body.
IGHMBP2 is a 5' to 3' helicase that unwinds RNA and DNA duplexes in an ATP-dependent reaction. It specifically targets 5'-phosphorylated single-stranded guanine-rich sequences. IGHMBP2 potentially participates in RNA metabolism, ribosome biogenesis, and the initiation of translation. It may also play a role in regulating transcription. IGHMBP2 interacts with tRNA-Tyr, RUVBL1, RUVBL2, GTF3C1, ABT1, and ribosomes.
IGHMBP2 is also known as CATF1, CMT2S, HCSA, HMN6, HMNR1, SMARD1, SMUBP2, ZFAND7.
Associated Diseases
- Spinal muscular atrophy, distal, autosomal recessive, 1
- Charcot-Marie-Tooth disease, axonal, type 2S
- Charcot-Marie-Tooth disease
- Spinal muscular atrophy with respiratory distress type 1
