SLC9C1
Delving into the World of SLC9C1 Gene: A Comprehensive Overview
Description:
The SLC9C1 gene, located on chromosome 12, holds the blueprint for producing a protein called solute carrier family 9 member C1 (SLC9C1). This protein resides within the cell membrane, serving as a vital transporter, facilitating the movement of organic molecules across the membrane barrier. Its primary role is the bidirectional transport of sodium-dependent cationic amino acids, such as arginine, lysine, ornithine, and citrulline. These amino acids play crucial roles in various cellular processes, including protein synthesis, energy production, and immune response.
Associated Diseases:
Disruptions in the SLC9C1 gene can lead to a spectrum of genetic disorders, collectively known as SLC9C1-related disorders. These disorders primarily affect the kidneys and liver.
- Cystinuria: Characterized by the inability of the kidneys to reabsorb cystine, an amino acid. This leads to the excessive excretion of cystine in urine, potentially leading to kidney stones.
- Arginine Succinic Aciduria: Arises from the deficiency of argininosuccinate synthase, an enzyme involved in the urea cycle. This results in the accumulation of citrulline, leading to neurological and intellectual disabilities.
- Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome (HHH Syndrome): A rare disorder characterized by elevated levels of orinthine, ammonia, and homocitrulline in the blood. It can cause intellectual disability, seizures, and liver dysfunction.
Did you Know ?
Cystinuria, the most prevalent of SLC9C1-related disorders, affects approximately 1 in 7,000 individuals worldwide. It tends to be more common in certain regions, such as the Middle East and North Africa, with a higher prevalence of 1 in 2,000 individuals.
