SLC35F6

Ideogram human chromosome 2

SLC35F6

SLC35F6 is a gene that encodes a protein belonging to the solute carrier family 35. This gene is located on chromosome 2 in humans. The protein encoded by SLC35F6 is involved in the transport of nucleotide sugars across the cell membrane, which is essential for various cellular processes including glycosylation.

Function

The primary function of SLC35F6 is to facilitate the transport of nucleotide sugars such as UDP-glucose and UDP-galactose across cellular membranes. These nucleotide sugars serve as essential substrates for glycosylation, a post-translational modification process that plays a crucial role in protein folding, stability, and function.

Structure

SLC35F6 is composed of multiple transmembrane domains that enable its localization to the cell membrane. The specific structure of SLC35F6 allows it to interact with nucleotide sugars and facilitate their transport across the membrane.

Clinical Significance

Mutations in the SLC35F6 gene have been associated with various genetic disorders characterized by abnormal glycosylation patterns. These disorders can lead to a range of clinical manifestations, including developmental delays, intellectual disabilities, and skeletal abnormalities.

Interactions

SLC35F6 is known to interact with other proteins involved in the glycosylation pathway, such as glycosyltransferases and sugar nucleotide biosynthetic enzymes. These interactions are crucial for coordinating the transport and utilization of nucleotide sugars within the cell.