CHRND cholinergic receptor nicotinic delta subunit
Gene ID: 1144, updated on 2-Nov-2024Gene type: protein coding
Also known as: ACHRD; CMS2A; CMS3A; CMS3B; CMS3C; FCCMS; SCCMS
- See all available tests in GTR for this gene
- Go to complete Gene record for CHRND
- Go to Variation Viewer for CHRND variants
Summary
The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and delta subunits. After acetylcholine binding, the receptor undergoes an extensive conformation change that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. Defects in this gene are a cause of multiple pterygium syndrome lethal type (MUPSL), congenital myasthenic syndrome slow-channel type (SCCMS), and congenital myasthenic syndrome fast-channel type (FCCMS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Congenital myasthenic syndrome 3A | See labs |
| Congenital myasthenic syndrome 3B | See labs |
| Congenital myasthenic syndrome 3C | See labs |
| Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. GeneReviews: Not available | |
| Lethal multiple pterygium syndrome | See labs |
Genomic context
- Location:
- 2q37.1
- Sequence:
- Chromosome: 2; NC_000002.12 (232526160..232536664)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CHRND variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- Leiden Muscular Dystrophy pages (CHRND)
- 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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