SLC25A47
delving into the SLC25A47 Gene: A Comprehensive Guide
Description
The solute carrier family 25 member 47 gene (SLC25A47), located on chromosome 11q13.1, encodes a mitochondrial transporter protein responsible for shuttling UDP-glucuronic acid (UDPGA) across the mitochondrial inner membrane. UDPGA serves as an essential precursor for the synthesis of glycosaminoglycans (GAGs), critical components of the extracellular matrix (ECM). The SLC25A47 protein‘s proper functioning is pivotal for maintaining normal cell physiology and tissue integrity.
Associated Diseases
Mutations in the SLC25A47 gene have been linked to several inherited conditions, including:
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Congenital Disorder of Glycosylation Type Ij (CDG-Ij): A rare disorder characterized by severe intellectual disability, seizures, and skeletal abnormalities due to impaired GAG synthesis.
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Usher Syndrome Type 1J (USH1J): An inherited condition affecting both hearing and vision, caused by defects in the SLC25A47 protein‘s role in maintaining the health of the inner ear and retina.
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Mitochondrial Encephalopathy with Lactic Acidosis and Stroke-like Episodes (MELAS): A severe neurological disorder characterized by recurrent strokes, muscle weakness, and cognitive impairment, often associated with SLC25A47 mutations.
Did you Know ?
Studies have estimated that SLC25A47 mutations account for approximately 5-10% of cases of CDG-Ij and 5-15% of cases of USH1J. These numbers highlight the significant impact of SLC25A47 mutations on these conditions.
