TMEM165 Antibody – Rabbit Polyclonal

This gene encodes a predicted transmembrane protein with a perinuclear Golgi-like distribution in fibroblasts. Mutations in this gene are associated with the autosomal recessive disorder congenital disorder of glycosylation, type IIk. Knockdown of this gene's expression causes decreased sialylation in HEK cells and suggests this gene plays a role in terminal Golgi glycosylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]

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, multi-pass; Membrane protein, integral

Chromosomal Location of Human Ortholog: 4q12

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

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

Disease: Congenital Disorder Of Glycosylation, Type Iik