QuickView for CHRND (gene)

Gene Symbol:

CHRND Homo sapiens

Full name:

cholinergic receptor nicotinic delta subunit

Synonyms:

ACHRD, CMS2A, CMS3A, CMS3B, CMS3C, FCCMS, SCCMS, acetylcholine receptor subunit delta, acetylcholine receptor, nicotinic, delta (muscle), cholinergic receptor, nicotinic delta, cholinergic receptor, nicotinic, delta (muscle), cholinergic receptor, nicotinic, delta polypeptide

Genomic Location:

Chr 2: 233099166-233108449

Description:

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 ...

View Full Description

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.

View Less

Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Bos taurus ,  Danio rerio ,  Gallus gallus ,  Canis lupus familiaris ,  Pan troglodytes

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

E12_Q6 ,  MYOD_Q6_01 ,  TFIIA_Q6 ,  E2A_Q2 ,  YAATNRNNNYNATT_UNKNOWN ,  CAGGTG_E12_Q6 ,  MYOD_Q6 ,  PAX_Q6 ,  LMO2COM_01

Cytogenetic Map:

2q37.1

search → result