STX16-NPEPL1
Description
The STX16-NPEPL1 (STX16-NPEPL1 readthrough (NMD candidate)) is a ncRNA gene located on chromosome 20.
The STX16-NPEPL1 fusion gene is a result of a chromosomal rearrangement, specifically a translocation between chromosomes 1 and 16. This fusion gene encodes a chimeric protein that combines parts of the STX16 and NPEPL1 proteins. The exact function of this fusion protein is not fully understood, but it is thought to be involved in intracellular trafficking and vesicle transport.
The STX16-NPEPL1 fusion gene is a result of a chromosomal rearrangement, specifically a translocation between chromosomes 1 and 16. This fusion gene encodes a chimeric protein that combines parts of the STX16 and NPEPL1 proteins. The exact function of this fusion protein is not fully understood, but it is thought to be involved in intracellular trafficking and vesicle transport. The STX16 protein is known to play a role in the fusion of vesicles with the plasma membrane, while NPEPL1 is involved in the degradation of proteins in the endoplasmic reticulum. The fusion protein may disrupt normal cellular processes due to its chimeric nature.
STX16-NPEPL1 is also known as -.
Associated Diseases
- type 2 diabetes mellitus
- diabetes mellitus, permanent neonatal 4
- permanent neonatal diabetes mellitus 1
- diabetes mellitus, transient neonatal, 3
