||ORF Nucleotide Sequence (Length: 1554bp)
||pcDNA3.1-C-(k)DYK or customized vector
|Tag on pcDNA3.1-C-(k)DYK
||C terminal DYKDDDDK tags
|ORF Insert Method
||CloneEZ® Seamless cloning technology
||Homo sapiens (human)
||acetylcholine receptor subunit gamma precursor
||REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AK125362.1.
This sequence is a reference standard in the RefSeqGene project.
On Mar 24, 2005 this sequence version replaced gi:7382453.
Summary: The mammalian muscle-type acetylcholine receptor is a
transmembrane pentameric glycoprotein with two alpha subunits, one
beta, one delta, and one epsilon (in adult skeletal muscle) or
gamma (in fetal and denervated muscle) subunit. This gene, which
encodes the gamma subunit, is expressed prior to the thirty-third
week of gestation in humans. The gamma subunit of the acetylcholine
receptor plays a role in neuromuscular organogenesis and ligand
binding and disruption of gamma subunit expression prevents the
correct localization of the receptor in cell membranes. Mutations
in this gene cause Escobar syndrome and a lethal form of multiple
pterygium syndrome. Muscle-type acetylcholine receptor is the major
antigen in the autoimmune disease myasthenia gravis.[provided by
RefSeq, Sep 2009].
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
CDS exon combination :: AK125362.1 [ECO:0000331]
RNAseq introns :: single sample supports all introns
SAMEA2162946, SAMEA962347 [ECO:0000348]