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TMEM165
Transmembrane Protein 165
TMEM165 is 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.
| Gene Name: | Transmembrane Protein 165 |
| Synonyms: | TMEM165, CDG2K, GDT1, FT27, TPARL, Transmembrane protein PT27, TMPT27, TPA regulated locus, Transmembrane protein 165, Transmembrane protein TPARL |
| Target Sequences: | NM_018475 NP_060945.2 Q9HC07 |
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