rs117926813
This variant is located in the TMEM165 gene.
▶ClinVar annotation
Benign★★★☆
2 submitters1 publicationAbout 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]
View all TMEM165 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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