Search for a gene
CHRND - cholinergic receptor nicotinic delta subunit
- Synonym(s) : acetylcholine receptor, nicotinic, delta (muscle)
- Previous symbols and names : 'cholinergic receptor, nicotinic, delta', ACHRD, Cholinergic receptor, nicotinic, delta, cholinergic receptor, nicotinic delta, cholinergic receptor, nicotinic, delta (muscle)
- Type : gene with protein product
- Chromosomal location : 2q37.1
- OMIM: 100720
- HGNC: 1965
- UniProtKB: Q07001
- Genatlas: CHRND
- GenCC: CHRND
- Ensembl: ENSG00000135902
- IUPHAR-DB: 476
- Reactome: Q07001
- LOVD: CHRND
Diseases list
- Disease-causing germline mutation(s) in Lethal multiple pterygium syndrome
ORPHA:33108 
- Disease-causing germline mutation(s) (loss of function) in Postsynaptic congenital myasthenic syndromes
ORPHA:98913 - Disease-causing germline mutation(s) (gain of function) in Postsynaptic congenital myasthenic syndromes
ORPHA:98913
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.