Query author contributions in Reactome
Reactome depends on collaboration between our curation team and outside experts to assemble and peer-review its pathway modules. The integration of ORCID within Reactome enables us to meet a key challenge with authoring, curating and reviewing biological information by incentivizing and crediting the external experts that contribute their expertise and time to the Reactome curation process. More information is available at ORCID and Reactome.
If you have an ORCID ID that is not listed on this page, please forward this information to us and we will update your Reactome pathway records.
Details on Person The SLC26A1 and 2 genes encode proteins that facilitate sulf...
| Class:Id | Summation:3560784 |
|---|---|
| _displayName | The SLC26A1 and 2 genes encode proteins that facilitate sulf... |
| _timestamp | 2014-10-10 13:37:07 |
| created | [InstanceEdit:3560797] Jassal, B, 2013-05-21 |
| modified | [InstanceEdit:3621807] Jassal, B, 2013-05-24 [InstanceEdit:4006087] Jassal, B, 2013-07-26 [InstanceEdit:5626485] Jassal, Bijay, 2014-10-10 |
| text | The SLC26A1 and 2 genes encode proteins that facilitate sulfate uptake into cells, though to be facilitated by cotransport with protons. SLC26A2 is ubiquitously expressed and encodes a sulfate transporter (Diastrophic dysplasia protein, DTD, DTDST) (Hastbacka et al. 1994). This transporter provides sulfate for proteoglycan sulfation which is needed for cartilage development. Defects in SLC26A2 result in impaired SO4(2-) transport leading to insufficient sulfation of cartilage proteoglycans. The severest form of achondrodysplasia, achondrogenesis type 1B (ACG-1B; MIM:600972), is caused by SLC26A2 mutations such as G255E, A585Vfs*6, L483P, R178X and N425D (Hastbacka et al. 1994, Karniski 2001, Superti-Furga et al. 1996). |
| (summation) | [FailedReaction:3560789] Defective SLC26A2 does not cotransport extracellular SO4(2-), H+ to cytosol [Homo sapiens] |
| [Change default viewing format] | |
No pathways have been reviewed or authored by The SLC26A1 and 2 genes encode proteins that facilitate sulf... (3560784)
