TEX43

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The TEX43 Gene: An Intriguing Nexus in Human Health and Disease

Description

The TEX43 gene, also known as the testes expressed gene 43, resides on the X chromosome and plays a crucial role in various biological processes. It encodes a protein of the same name, TEX43, which is primarily expressed in the testes and ovaries. TEX43 forms an integral part of the extracellular matrix, a network of molecules that provides structural support and functional cues to cells.

Associated Diseases

Mutations or alterations in the TEX43 gene have been implicated in several debilitating conditions, including:

• Nephrotic Syndrome: A kidney disorder characterized by proteinuria (excessive protein in urine), edema, and elevated cholesterol.
• Dystonia: A movement disorder causing abnormal involuntary muscle contractions and tremors.
• Infertility: Mutations in TEX43 can disrupt spermatogenesis, leading to male infertility.

Did you Know ?

One in every 20,000 individuals worldwide is estimated to carry a mutation in the TEX43 gene, highlighting its significance in human health.