SEPX1

Ideogram human chromosome 16

SEPX1

SEPX1 is a gene that encodes a protein involved in the synthesis of selenoproteins. Selenoproteins are a group of proteins that contain the trace element selenium in the form of the amino acid selenocysteine. The function of SEPX1 is to regulate the incorporation of selenocysteine into selenoproteins, which are essential for various biological processes in the body.

Function

SEPX1 plays a crucial role in maintaining cellular redox balance and protecting cells from oxidative stress. It is involved in the synthesis of selenoproteins that act as antioxidants, helping to neutralize harmful free radicals and prevent damage to cells and tissues. Additionally, SEPX1 is important for proper immune function and thyroid hormone metabolism.

Structure

The SEPX1 gene is located on chromosome X and consists of several exons that encode the protein sequence. The protein product of SEPX1 contains specific domains that are responsible for interacting with other proteins involved in selenoprotein synthesis and selenium metabolism.

Clinical Significance

Mutations in the SEPX1 gene have been associated with various health conditions, including disorders related to selenium deficiency and impaired selenoprotein function. Defects in SEPX1 can lead to increased susceptibility to oxidative stress, compromised immune response, and thyroid dysfunction.

Interactions

SEPX1 interacts with several other proteins involved in the selenoprotein synthesis pathway, such as selenocysteine synthase and selenoprotein P. These interactions are essential for the proper incorporation of selenocysteine into selenoproteins and the maintenance of selenium homeostasis in the body.