CHRND

GENE INFORMATION

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Gene name

CHRND (HGNC Symbol)

Synonyms

ACHRD

Description

Cholinergic receptor, nicotinic, delta (muscle) (HGNC Symbol)

Entrez gene 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, some protein-coding and some not, have been found for this gene. [provided by RefSeq, Feb 2012]

Chromosome

2

Cytoband

q37.1

Chromosome location (bp)

232525993 - 232536667

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000135902 (version 78.38)

Entrez gene

1144

UniProt

Q07001 (UniProt - Evidence at protein level)

neXtProt

NX_Q07001

Antibodypedia

CHRND antibodies
 

PROTEIN VIEW

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CHRND-001
 
CHRND-003
 
CHRND-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CHRND-001 ENSP00000258385
ENST00000258385
Q07001
Show all »
Show » Show » 517 58.9 Yes 4
CHRND-003 ENSP00000404950
ENST00000449596
C9JJV8
Show all »
Show » Show » 172 19.6 Yes 0
CHRND-201 ENSP00000438380
ENST00000543200
Q07001
Show all »
Show » Show » 502 57.1 Yes 4