Background |
beta-1, 4-Galactosyltransferase 1 (B4GALT1) is one of seven B4GALT genes. Human B4GALT1 encodes a type II membrane protein, which is ubiquitously expressed and involved in glycoconjugate biosynthesis. A soluble form (aa 78 to 398), derived from proteolytic cleavage, is a component of lactose synthase in milk that also contains I+/--lactalbumin. Defects in B4GALT1 are the cause of multisystem disorders present with a wide variety of clinical features, such as disorders of the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. |