Slc51a, encoding the organic solute transporter (OST)-α, is a key gene in the solute carrier family. It heterodimerizes with SLC51B-encoded OSTβ to form a functional transporter complex. This complex plays a central role in the transport of bile acids, conjugated steroids, and related molecules across the basolateral membrane of many epithelial cells, being essential for intestinal bile acid absorption and thus dietary lipid absorption [2].

In a study on children with reduced SLC51A expression, a novel homozygous variant was identified, leading to fat malabsorption, severe fat-soluble vitamin deficiency, rickets, and mild liver involvement. These findings suggest that loss of SLC51A expression disrupts bile acid homeostasis, contributing to fat malabsorption [1].

In conclusion, Slc51a is crucial for maintaining bile acid homeostasis and lipid absorption. The identification of SLC51A variants in children with fat malabsorption underscores its significance in lipid-related physiological processes and diseases. Understanding Slc51a's function may provide insights into the treatment of fat malabsorption and related disorders.

References:

1. Tronstad, Rune Rose, Berland, Siren, Tjora, Erling, Rao, Anuradha, Dawson, Paul A. 2022. Fat Malabsorption and Ursodeoxycholic Acid Treatment in Children With Reduced Organic Solute Transporter-α (SLC51A) Expression. In JPGN reports, 3, e229. doi:10.1097/pg9.0000000000000229. https://pubmed.ncbi.nlm.nih.gov/36148443/

2. Ballatori, Nazzareno, Christian, Whitney V, Wheeler, Sadie G, Hammond, Christine L. . The heteromeric organic solute transporter, OSTα-OSTβ/SLC51: a transporter for steroid-derived molecules. In Molecular aspects of medicine, 34, 683-92. doi:10.1016/j.mam.2012.11.005. https://pubmed.ncbi.nlm.nih.gov/23506901/