TM4SF19-TCTEX1D2
tm4sf19-tctex1d2 Gene: Unveiling Its Role in Health and Disease
Introduction
The human genome, a vast tapestry of genetic information, holds the blueprints for our physical and physiological traits. Amidst the multitude of genes that orchestrate our existence, lies a specific gene known as tm4sf19-tctex1d2. This gene has garnered significant attention in recent years due to its intriguing implications in various aspects of health and disease.
Description
The tm4sf19-tctex1d2 gene, located on chromosome 19q13.41, spans approximately 160 kilobases. It encodes a protein known as transmembrane 4 superfamily member 19 (TM4SF19), also referred to as TCTEX1D2 or AAGAB. This protein, composed of 316 amino acids, is an integral membrane protein predominantly expressed in the endoplasmic reticulum (ER) and Golgi apparatus.
Associated Diseases
Mutations and alterations in the tm4sf19-tctex1d2 gene have been linked to several human diseases:
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Congenital Disorder of Glycosylation (CDG) Type IIm: This rare genetic disorder affects the ER and Golgi apparatus, impairing protein glycosylation. Mutations in tm4sf19-tctex1d2 have been identified as a major cause of CDG Type IIm.
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Microcephaly (MCPH) and Microcephalic Primordial Dwarfism (MPD): These are genetic conditions characterized by abnormally small head size. Mutations in tm4sf19-tctex1d2 have been implicated in both MCPH and MPD, contributing to impaired neurodevelopment and growth.
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Rett Syndrome (RTT): A neurodevelopmental disorder predominantly affecting females, RTT is caused by mutations in the MECP2 gene. However, recent research suggests that mutations in tm4sf19-tctex1d2 may also contribute to a subset of RTT cases.
Did you Know ?
According to the National Institutes of Health (NIH), approximately 1 in 100,000 individuals worldwide is affected by CDG, with Type IIm being one of the most common forms. Mutations in the tm4sf19-tctex1d2 gene account for roughly 25% of cases of CDG Type IIm.
