SLC31A1

SLC31A1 is a gene that in humans is responsible for encoding the high affinity copper uptake protein 1. This protein is a multi-pass membrane protein that functions as a copper transporter in the liver and peripheral nervous system. Copper is an essential trace element that is required for enzyme catalysis, energy production, and the regulation of gene expression.

Function

The SLC31A1 gene provides instructions for making a protein that is involved in the transport of copper into cells. This protein, known as copper transporter 1 (CTR1), is found in the outer membrane of cells, where it controls the intake of copper from the environment. Copper is a crucial component of several enzymes and is necessary for a variety of cellular functions, including energy production, iron metabolism, the synthesis of connective tissues, and the creation of pigments for hair and skin.

Clinical significance

Mutations in the SLC31A1 gene have been associated with various medical conditions. For instance, a decreased expression of this gene has been linked to the development of certain types of cancer, including colorectal and lung cancer. Additionally, alterations in the SLC31A1 gene may contribute to the pathogenesis of neurodegenerative diseases, such as Alzheimer's and Parkinson's disease, due to the role of copper in neuronal health.

See also

• SLC31A2
• Copper in health
• Copper deficiency
• Copper metabolism

External links

• NCBI Gene
• GeneCards

SLC31A1 Resources
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