Ensembl is currently experiencing issues

The Ensembl REST API is temporarily unavailable. Some gene data (transcript details, protein domains) may be incomplete. Other data sources are unaffected.

You can check Ensembl's status at status.ensembl.org

IDDSAPN

Chr 14AR

nuclear export mediator factor

Also known as: IDDSAPN, NY-CO-1, RQC2, SDCCAG1

This gene encodes a component of the ribosome quality control complex. The encoded protein facilitates the recognition and ubiquitination of stalled 60S subunits by the ubiquitin ligase listerin. A similar protein in fly functions as a tumor suppressor. [provided by RefSeq, Jul 2016]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Intellectual developmental disorder with speech delay and axonal peripheral neuropathyMIM #619099
AR
0
Active trials
0
Pubs (1 yr)
P/LP submissions
P/LP missense
LOEUF
Mechanism
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/IDDSAPN?content-type=application/json

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

IDDSAPN · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →