rs387907221

This is a variant in the TMEM165 gene that changes a arginine to an histidine.

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ClinVar annotation

Pathogenic

1 submitter1 publication

TMEM165-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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