STX7
Description
The STX7 (syntaxin 7) is a protein-coding gene located on chromosome 6.
Syntaxin-7 is a protein encoded by the STX7 gene in humans. Its expression in melanocytic cells can be regulated by MITF. STX7 interacts with various proteins, including STX8, VPS18, Vesicle-associated membrane protein 8, and VPS11.
STX7 is implicated in the movement of proteins from the cell surface (plasma membrane) to early endosomes, as well as in the merging of similar endocytic compartments. Additionally, it facilitates the transport of materials from early endosomes to late endosomes and lysosomes.
STX7 is also known as -.
Associated Diseases
- hypoparathyroidism, familial isolated, 2
- reticular dysgenesis
- short-limb skeletal dysplasia with severe combined immunodeficiency
- pseudohypoparathyroidism type 2
- immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
