TANGO1/MIA3

Ideogram human chromosome 1

TANGO1/MIA3

TANGO1, also known as MIA3, is a protein-coding gene that plays a crucial role in the transport of proteins within cells. It is involved in the formation of the endoplasmic reticulum exit sites and the regulation of protein secretion. The TANGO1 protein is essential for the proper functioning of the secretory pathway in eukaryotic cells.

Function

TANGO1/MIA3 is a key player in the assembly of COPII-coated vesicles at the endoplasmic reticulum exit sites. These vesicles are responsible for transporting newly synthesized proteins from the endoplasmic reticulum to the Golgi apparatus for further processing and sorting. TANGO1/MIA3 interacts with various proteins involved in vesicle formation and cargo selection, ensuring the efficient transport of proteins within the cell.

Structure

The TANGO1/MIA3 gene encodes a protein that contains multiple domains, including a coiled-coil domain and a conserved luminal domain. These domains are essential for the proper localization and function of TANGO1/MIA3 in the secretory pathway. The protein undergoes post-translational modifications that regulate its activity and interaction with other cellular components.

Regulation

The expression and activity of TANGO1/MIA3 are tightly regulated to maintain the integrity of the secretory pathway. Various signaling pathways and cellular processes control the levels of TANGO1/MIA3 in response to changing cellular conditions. Dysregulation of TANGO1/MIA3 has been linked to defects in protein secretion and the development of certain diseases.

Clinical Significance

Mutations in the TANGO1/MIA3 gene have been associated with various human disorders, including skeletal abnormalities and developmental defects. Understanding the role of TANGO1/MIA3 in protein transport and secretion is essential for elucidating the molecular mechanisms underlying these diseases and developing potential therapeutic interventions.

See also

• Endoplasmic reticulum
• Protein transport
• COPII-coated vesicles

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