ARX aristaless related homeobox
Gene ID: 170302, updated on 2-Nov-2024Gene type: protein coding
Also known as: ISSX; PRTS; CT121; EIEE1; MRX29; MRX32; MRX33; MRX36; MRX38; MRX43; MRX54; MRX76; MRX87; MRXS1
- See all available tests in GTR for this gene
- Go to complete Gene record for ARX
- Go to Variation Viewer for ARX variants
Summary
This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system. This gene is thought to be involved in CNS development. Expansion of a polyalanine tract and other mutations in this gene cause X-linked cognitive disability and epilepsy. [provided by RefSeq, Jul 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Corpus callosum agenesis-abnormal genitalia syndrome | not available |
| Developmental and epileptic encephalopathy, 1 | not available |
| Intellectual disability, X-linked, with or without seizures, arx-related | not available |
| Partington syndrome | not available |
| X-linked lissencephaly with abnormal genitalia | not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2019-12-05) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2019-12-05) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- Xp21.3
- Sequence:
- Chromosome: X; NC_000023.11 (25003694..25015965, complement)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ARX variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ARX database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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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