ABCB9

ABCB9 is a protein that in humans is encoded by the ABCB9 gene. It is a member of the ATP-binding cassette transporter superfamily, which is one of the largest and most diverse families of transport proteins. ABCB9 is also known as ATP-binding cassette sub-family B member 9.

Function

ABCB9 is an intracellular ATP-binding cassette (ABC) transporter that is associated with lysosomes and endosomes. It is involved in the transport of various molecules across extra- and intra-cellular membranes. The exact substrate of ABCB9 is currently unknown, but it is thought to play a role in the transport of peptides from the cytosol into the lumen of lysosomes. This function is important for the degradation of proteins and the presentation of antigens to the immune system.

Clinical Significance

Mutations in the ABCB9 gene have been associated with various diseases. For example, a mutation in this gene has been linked to Parkinson's disease, a neurodegenerative disorder characterized by the death of dopamine-producing cells in the brain. Additionally, ABCB9 has been implicated in cancer progression and drug resistance, as it may contribute to the efflux of chemotherapeutic drugs from cancer cells.

Research

Research on ABCB9 is ongoing, with studies focusing on its role in disease progression and potential as a therapeutic target. For example, inhibiting the function of ABCB9 could potentially enhance the effectiveness of chemotherapy in cancer treatment.

See Also

• ATP-binding cassette transporter
• Lysosome
• Endosome
• Parkinson's disease
• Cancer

References

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