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.
