ALG14

Description

ALG14, also known as UDP-N-acetylglucosamine-1-phosphate transferase, is an essential enzyme involved in the biosynthesis of N-linked glycans. These glycans, attached to proteins, play crucial roles in protein folding, stability, and cell signaling. ALG14 catalyzes the transfer of N-acetylglucosamine 1-phosphate from UDP-N-acetylglucosamine 1-phosphate to dolichyl-phosphate, a key step in the assembly of the lipid-linked oligosaccharide precursor. This precursor is then transferred to nascent polypeptide chains in the endoplasmic reticulum, initiating the N-glycosylation process.

Associated Diseases

• Congenital Disorders of Glycosylation (CDG) Type Ia
• ALG14 Deficiency
• Hypoglycosylation Syndromes
• Developmental Delay
• Neurological Abnormalities

Did you know?

Mutations in the ALG14 gene can lead to a variety of human diseases, highlighting the importance of N-glycosylation in human health.