B4GALT1
Function
Beta-1,4-galactosyltransferase 1
The Golgi complex form catalyzes the production of lactose in the lactating mammary gland and could also be responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids.
Processed beta-1,4-galactosyltransferase 1
The cell surface form functions as a recognition molecule during a variety of cell to cell and cell to matrix interactions, as those occurring during development and egg fertilization, by binding to specific oligosaccharide ligands on opposing cells or in the extracellular matrix.
Involvement in disease
Congenital disorder of glycosylation 2D
CDG2D
A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.
None
The disease is caused by variants affecting the gene represented in this entry.
Combined low LDL and fibrinogen
CLDLFIB
An autosomal recessive condition characterized by low plasma LDL-cholesterol and fibrinogen levels, and associated with a decreased risk of coronary artery disease.
None
Disease susceptibility may be associated with variants affecting the gene represented in this entry.
Pathway
Protein modification; protein glycosylation.
Post-translational modifications
The soluble form derives from the membrane forms by proteolytic processing.
Sequence Similarities
Belongs to the glycosyltransferase 7 family.
Tissue Specificity
Ubiquitously expressed, but at very low levels in fetal and adult brain.
Cellular localization
- Isoform Long
- Golgi apparatus
- Golgi stack membrane
- Single-pass type II membrane protein
- Cell membrane
- Single-pass type II membrane protein
- Cell surface
- Cell projection
- Filopodium
- Found in trans cisternae of Golgi but is mainly localized at the plasma membrane (PubMed:1714903). B4GALT1 cell surface expression is regulated by UBE2Q1 (By similarity).
- Isoform Short
- Golgi apparatus
- Golgi stack membrane
- Single-pass type II membrane protein
- Found in trans cisternae of Golgi.
- Processed beta-1,4-galactosyltransferase 1
- Secreted
- Soluble form found in body fluids.
Alternative names
GGTB2, B4GALT1, Beta4Gal-T1, b4Gal-T1, Lactose synthase A protein, N-acetyllactosamine synthase, Nal synthase