ABCB5

ABCB5 is a gene that is part of the ATP-binding cassette (ABC) transporter superfamily. The ABC transporters are integral membrane proteins that utilize the energy of adenosine triphosphate (ATP) to carry out certain biological processes, including transmembrane transport of various molecules in a process called active transport.

Function[edit | edit source]

The ABCB5 gene encodes a member of the ABC transporter superfamily. The encoded protein, ABCB5, is a multi-pass membrane protein that functions as a transporter and is involved in cellular processes such as cell proliferation, cell differentiation, and cell signaling. ABCB5 is also associated with drug resistance in certain types of cancer.

Clinical significance[edit | edit source]

Mutations in the ABCB5 gene have been associated with various diseases, including certain types of cancer, skin diseases, and eye diseases. In cancer, ABCB5 has been found to be overexpressed in some melanoma cells, leading to increased drug resistance. In skin diseases, ABCB5 is involved in the regulation of melanocyte proliferation and differentiation, which can lead to conditions such as vitiligo and melanoma. In eye diseases, ABCB5 is expressed in corneal limbal stem cells, and its dysfunction can lead to conditions such as limbal stem cell deficiency.

References[edit | edit source]

External links[edit | edit source]

ABCB5 Resources
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