GUSBP1
Description
The GUSBP1 (GUSB pseudogene 1) is a pseudo gene located on chromosome 5.
GUSBP1 is a protein that is involved in the lysosomal enzyme transport pathway, which is responsible for delivering lysosomal enzymes to their correct locations within cells. It interacts with the β-glucuronidase (GUSB) enzyme, helping to transport it from the endoplasmic reticulum to the lysosomes.
GUSBP1, also known as GUSB-binding protein 1, is a protein that in humans is encoded by the GUSBP1 gene. This gene is located on chromosome 17 and spans approximately 30 kilobases. GUSBP1 is a key component of the lysosomal enzyme transport pathway, a process essential for the delivery of lysosomal enzymes to their proper location within cells. The protein interacts with the β-glucuronidase (GUSB) enzyme, facilitating its transport from the endoplasmic reticulum to lysosomes. This interaction is crucial for the proper function of GUSB, which plays a critical role in the degradation of various glycosaminoglycans (GAGs). Deficiencies in GUSB activity can lead to mucopolysaccharidosis type VII (MPS VII), a rare genetic disorder characterized by the accumulation of GAGs in various tissues and organs. GUSBP1 is also believed to play a role in the regulation of lysosomal enzyme activity and the maintenance of lysosomal homeostasis.
GUSBP1 is also known as -.
