NP_060945.2
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
transmembrane protein 165
NCBI Official Synonym Full Names
transmembrane protein 165
NCBI Official Synonym Symbols
FT27; GDT1; CDG2K; TPARL; TMPT27 [Similar Products]
NCBI Protein Information
transmembrane protein 165; TPA regulated locus; transmembrane protein PT27; transmembrane protein TPARL
UniProt Protein Name
Transmembrane protein 165
UniProt Synonym Protein Names
Transmembrane protein PT27; Transmembrane protein TPARL
UniProt Synonym Gene Names
UniProt Entry Name
TM165_HUMAN
NCBI Summary for TMEM165
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]
UniProt Comments for TMEM165
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
Chromosomal Location of Human Ortholog: 4q12
Cellular Component: Golgi membrane; Golgi apparatus; intracellular membrane-bound organelle; early endosome membrane; lysosomal membrane; late endosome membrane; integral to membrane; endosome membrane; trans-Golgi network membrane
Biological Process: cellular calcium ion homeostasis; protein amino acid N-linked glycosylation; Golgi calcium ion transport
Disease: Congenital Disorder Of Glycosylation, Type Iik
Research Articles on TMEM165
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Organs/Tissues associated with anti-TMEM165 antibody
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