rs886059488

This variant is located in the TMEM165 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Congenital disorder of glycosylation

About 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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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