PP14571
The pp14571 Gene: Unraveling its Role in Health and Disease
Description
The pp14571 gene, also known as B4GALT6, encodes a type VI beta-galactosyltransferase enzyme. This enzyme plays a crucial role in the glycosylation of various proteins and lipids, influencing their stability, function, and interactions with other molecules.
The pp14571 gene is located on chromosome 17q22 and spans approximately 65 kb. It comprises seven exons and six introns, encoding a protein of 1454 amino acids. The protein structure includes a signal peptide, two transmembrane domains, a stem region, and a catalytic domain.
Associated Diseases
Mutations in the pp14571 gene have been linked to several disorders:
Morquio B Syndrome (MPS IVB): This rare autosomal recessive disorder is characterized by skeletal abnormalities, corneal clouding, hearing loss, and intellectual disability. Mutations in pp14571 disrupt the enzyme's function, leading to the accumulation of glycosaminoglycans (GAGs) in cells.
Limb-Girdle Muscular Dystrophy type 1D (LGMD1D): A rare autosomal dominant muscle disorder, LGMD1D causes muscle weakness and atrophy in the limbs and trunk. Mutations in pp14571 impair the enzyme's ability to glycosylate specific proteins essential for muscle function.
Congenital Hypertrichosis Lanuginosa (CHL): This rare condition is characterized by excessive hair growth on the body from birth. Mutations in pp14571 disrupt the glycosylation of a protein involved in hair follicle development.
Did you Know ?
Approximately 1 in 100,000 individuals worldwide have Morquio B Syndrome, making it a relatively rare genetic disorder. However, as a genetic condition, it is present in all cells of the affected individuals and can be passed on to offspring.
