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. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 4q12
Cellular Component:  early endosome membrane; endosome membrane; Golgi apparatus; integral component of 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 N-linked glycosylation
Disease: Congenital Disorder Of Glycosylation, Type Iik
Reference #:  Q9HC07 (UniProtKB)
Alt. Names/Synonyms: TM165; TMEM165; TMPT27; TPA regulated locus; TPARL; Transmembrane protein 165; Transmembrane protein PT27; Transmembrane protein TPARL
Gene Symbols: TMEM165
Molecular weight: 34,906 Da
Basal Isoelectric point: 6.53  Predict pI for various phosphorylation states
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TMEM165

Protein Structure Not Found.

Cross-references to other databases:  STRING  |  cBioPortal  |  Wikipedia  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene  |  InnateDB