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

XLID98

Chr XXLD

neurite extension and migration factor

Also known as: KIAA2022, KIDLIA, MRX98, XLID98, XPN

NCBI Gene: 340533 OMIM: 300912

This gene is disrupted by an X chromosome inversion that also affects a G-protein coupled purinergic receptor gene in the pseudoautosomal region. Mutations cause X-linked intellectual developmental disorder with an X-linked dominant inheritance pattern. The specific protein function remains unclear as the gene was identified through chromosomal rearrangement analysis rather than direct functional studies.

OMIM ResearchSummary from RefSeq, OMIM

An inversion on the X chromosome which disrupts this gene and a G-protein coupled purinergic receptor gene located in the pseudoautosomal region of the X chromosome has been linked to X linked cognitive disability.[provided by RefSeq, Mar 2009]

OMIM ResearchGenerating clinical summary…

XLD1 OMIM phenotype

Clinical Summary— XLID98

Explore recent and relevant literature in Research Assistant →

Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/XLID98?content-type=application/json&expand=1

gnomad: Error: Gene not found