SLC35A2

On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

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A change in the SLC35A2 gene was identified in a female, age 2 with congenital disorder of glycosylation, type IIm (read full description).

Date of Report

Nov 18, 2016

Full Name

Solute carrier family 35 member A2

Location

Chromosome X (Xp11.23)

Function

The SLC35A2 gene codes for a nucleotide sugar transporter that is important in the glycosylation process (Maszczak-Seneczko et al., 2015).

Database Links

GeneCards: SLC35A2

MedlinePlus Genetics: SLC35A2

NCBI Gene: 7355

OMIM: 314375

UniProtKB/Swiss-Prot: P78381

Clinical Significance

Changes in the SLC35A2 gene have been found in individuals with congenital disorder of glycosylation, type IIm. A change in the SLC35A2 gene was identified in a UDN participant with features of this condition.

Gene SLC35A2

Inheritance Pattern X-linked

Position (hg19) chrX:g.1149272C>A

Transcript NM_005660.2

DNA Change c.245G>T (15.5% mosaic)

Protein Change p.Cys82Phe

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