Transmembrane Protein 165 (TMEM165) Mouse Recombinant Protein

TMEM165: Defects in TMEM165 are the cause of congenital disorder of glycosylation type 2K (CDG2K). An autosomal recessive disorder with a variable phenotype. Affected individuals show psychomotor retardation and growth retardation, and most have short stature. Other features include dysmorphism, hypotonia, eye abnormalities, acquired microcephaly, hepatomegaly, and skeletal dysplasia. Congenital disorders of glycosylation are caused by a defect in glycoprotein biosynthesis and characterized by under- glycosylated serum glycoproteins and a wide variety of clinical features. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Belongs to the GDT1 family.

Protein type: Membrane protein, integral; Membrane protein, multi-pass

Cellular Component: Golgi apparatus; membrane; intracellular membrane-bound organelle; lysosomal membrane; lysosome; integral to membrane; trans-Golgi network membrane; endosome membrane; endosome

Biological Process: cellular calcium ion homeostasis; protein amino acid N-linked glycosylation; Golgi calcium ion transport