B4GALT7

Description

The B4GALT7 gene, located on chromosome 12, encodes an enzyme known as beta-1,4-galactosyltransferase 7. This enzyme plays a vital role in glycosylation, a process that adds sugar molecules (glycans) to proteins. Glycosylation is crucial for proper protein function, cell signaling, and immune response. B4GALT7 specifically catalyzes the transfer of galactose to N-acetylglucosamine (GlcNAc) residues on glycoproteins, contributing to the formation of complex glycan structures.

Associated Diseases

• Congenital disorders of glycosylation (CDG) Type IIe
• Spinal muscular atrophy with respiratory distress type 1 (SMARD1)
• Intellectual disability
• Epilepsy
• Cerebellar hypoplasia
• Microcephaly
• Hypotonia

Did you know?

Mutations in B4GALT7 have been linked to various developmental and neurological disorders, highlighting its importance in brain development and function.