TMEM165, Official Symbol TMEM165provided by HGNC Official Full Name transmembrane protein 165provided by HGNC Primary source HGNC:HGNC:30760 See related Ensembl:ENSG00000134851 MIM:614726; AllianceGenome:HGNC:30760 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FT27; GDT1; CDG2K; TPARL; TMPT27; SLC64A1 Summary 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] Expression Ubiquitous expression in urinary bladder (RPKM 19.0), gall bladder (RPKM 17.4) and 25 other tissues See more Orthologs mouse all