NEXMIF neurite extension and migration factor
Gene ID: 340533, updated on 5-Mar-2024Gene type: protein coding
Also known as: XPN; MRX98; KIDLIA; XLID98; KIAA2022
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- Go to complete Gene record for NEXMIF
- Go to Variation Viewer for NEXMIF variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Non-syndromic X-linked intellectual disability MedGen: C3501611GeneReviews: Not available | See labs |
| X-linked intellectual disability, Cantagrel type | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2019-06-26) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2019-06-26) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- Xq13.3
- Sequence:
- Chromosome: X; NC_000023.11 (74732856..74925452, complement)
- Total number of exons:
- 4
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NEXMIF variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- KIAA2022 @ LOVD
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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