Congenital Disorders of Glycosylation

Gene: SLC26A2

I don't know

Gene-disease association is well-established (OMIM, PMID:11241838) but I can find no evidence that it plays a direct role in glycosylation.

SLC26A2 encodes a membrane glycoprotein which functions as a sulfate transporter.

From GeneReviews: "Three autosomal recessive disorders, diastrophic dystrophy (DTD), atelosteogenesis type II (AOII), and achondrogenesis type IB (ACG-IB), all result from defective cartilage proteoglycan sulfation...All of these disorders result from different mutations in the DTD gene (SLC26A2), which encodes a plasma membrane sulfate transporter...the heavy demand for sulfate in bone and cartilage proteoglycan synthesis probably explains why the symptoms are most evident in these locations." (https://www.ncbi.nlm.nih.gov/books/NBK453041/)

SLC26A2 is on the Invitae and Mayo Clinic CDG panels. It is listed as a CDG gene on https://glycosmos.org/gdgdbs/index

Created: 22 Jul 2020, 1 a.m. | Last Modified: 22 Jul 2020, 1:06 a.m.

Panel Version: 0.96

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Skeletal dysplasia (various)

Publications

• 11241838

Variants in this GENE are reported as part of current diagnostic practice