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.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

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 (OMIM 300896). A change in the SLC35A2 gene was identified in a UDN participant with features of this condition.

Families affected by this condition have formed a Facebook group to connect with one another and share information. More information about the condition and research can be found on the CDG Care and Frontiers in Congenital Disorders of Glycosylation websites.

Gene	Inheritance	Position (hg19)	Transcript	DNA Change	Protein Change
SLC35A2	X-linked	chrX:g.1149272C>A	NM_005660.2	c.245G>T (15.5% mosaic)	p.Cys82Phe

Contact Us

Interested in learning more about this gene or sharing what you know? Contact us!