NHS NHS actin remodeling regulator
Gene ID: 4810, updated on 2-Nov-2024Gene type: protein coding
Also known as: CXN; SCML1; CTRCT40
- See all available tests in GTR for this gene
- Go to complete Gene record for NHS
- Go to Variation Viewer for NHS variants
Summary
This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been shown to cause Nance-Horan syndrome, and also X-linked cataract-40. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2014]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies susceptibility loci for Wilms tumor. GeneReviews: Not available | |
| Anophthalmia-microphthalmia syndrome MedGen: C5680330GeneReviews: Not available | See labs |
| Cataract 40 | See labs |
| Nance-Horan syndrome | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2021-04-28) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-04-28) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- Xp22.2-p22.13
- Sequence:
- Chromosome: X; NC_000023.11 (17375200..17735994)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NHS variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- NHS @ LOVD
- 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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