SLC35C1 Antibody – Rabbit Polyclonal

SLC35C1: Involved in GDP-fucose import from the cytoplasm into the Golgi lumen. Defects in SLC35C1 are the cause of congenital disorder of glycosylation type 2C (CDG2C); also known as leukocyte adhesion deficiency type II (LAD2). CDGs are a family of severe inherited diseases caused by a defect in protein N- glycosylation. They are characterized by under-glycosylated serum proteins. These 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. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. The clinical features of CDG2C include mental retardation, short stature, facial stigmata, and recurrent bacterial peripheral infections with persistently elevated peripheral leukocytes. Biochemically, CDG2C is characterized by a lack of fucosylated glycoconjugates, including selectin ligands. Belongs to the TPT transporter family. SLC35C subfamily.

Protein type: Transporter; Transporter, SLC family; Membrane protein, integral; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 11p11.2

Cellular Component: Golgi apparatus; Golgi membrane; integral to membrane

Biological Process: carbohydrate transport; cellular protein metabolic process; dolichol-linked oligosaccharide biosynthetic process; lipid glycosylation; negative regulation of Notch signaling pathway; positive regulation of defense response to virus by host; post-translational protein modification; protein amino acid N-linked glycosylation via asparagine; transmembrane transport

Disease: Congenital Disorder Of Glycosylation, Type Iic