TSPAN17

Description

The TSPAN17 (tetraspanin 17) is a protein-coding gene located on chromosome 5.

TSPAN17 is a member of the TspanC8 subgroup, a group of six proteins that interact with the transmembrane metalloprotease ADAM10. This interaction plays a crucial role in ADAM10's journey through the cell, enabling it to exit the endoplasmic reticulum, mature enzymatically, and travel to the cell surface. The TspanC8/ADAM10 complex also influences ADAM10's substrate specificity, meaning it determines which molecules ADAM10 will cleave. Notably, different TspanC8/ADAM10 complexes target different substrates, suggesting a variety of functions within the cell. TSPAN17 seems to regulate VE-cadherin expression in endothelial cells, likely through its interaction with ADAM10. This regulation contributes to the process of leukocyte transmigration, the movement of white blood cells across the blood vessel lining.

TSPAN17 is also known as FBX23, FBXO23, TM4SF17.

Associated Diseases

• hypertriglyceridemia 2
• cholesterol-ester transfer protein deficiency
• hemochromatosis type 5
• thyroid hormone metabolism, abnormal, 2
• sitosterolemia
• homozygous familial hypercholesterolemia
• hypercholesterolemia, autosomal dominant, 3
• pancreatic triacylglycerol lipase deficiency
• hyperlipidemia due to hepatic triglyceride lipase deficiency
• hypercholesterolemia, autosomal dominant, type B
• hereditary hyperferritinemia with congenital cataracts
• cancer