ABT1
abt1 Protein
Description
The abt1 protein (also known as solute carrier family 15 member 1, SLC15A1) is a transmembrane protein that plays a vital role in transporting peptide-based nutrients across cell membranes. It belongs to the solute carrier family SLC15, which comprises various peptide and amino acid transporters.
Associated Diseases
Mutations in the abt1 gene have been linked to the following diseases:
- Fanconi-Bickel syndrome: An inherited disorder characterized by renal tubular acidosis, growth retardation, and defects in the transport of nutrients in the kidneys.
- Proximal tubular acidosis: A condition in which the kidneys are unable to reabsorb certain substances, leading to an imbalance in body fluids and electrolytes.
- Hypophosphatemic rickets: A condition that results in bone deformities due to impaired phosphate reabsorption in the kidneys.
- Osteomalacia: A condition that involves the softening of bones due to inadequate mineralization.
- Dent‘s disease: A rare genetic disorder primarily affecting the kidneys, causing severe renal failure in childhood.
Did you Know ?
Approximately 1 in 60,000 people worldwide are affected by Fanconi-Bickel syndrome, caused by mutations in the abt1 gene.
