Details for: CHRNE
Associated with
Other Information
Genular Protein ID: 3562568325
Symbol: ACHE_HUMAN
Name: Acetylcholine receptor subunit epsilon
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 7688301
Title: Primary structure of the human muscle acetylcholine receptor. cDNA cloning of the gamma and epsilon subunits.
PubMed ID: 7688301
PubMed ID: 15609996
Title: Alpha-conotoxins ImI and ImII target distinct regions of the human alpha7 nicotinic acetylcholine receptor and distinguish human nicotinic receptor subtypes.
PubMed ID: 15609996
DOI: 10.1021/bi048918g
PubMed ID: 7538206
Title: A leucine-to-phenylalanine substitution in the acetylcholine receptor ion channel in a family with the slow-channel syndrome.
PubMed ID: 7538206
DOI: 10.1212/wnl.45.5.982
PubMed ID: 7531341
Title: Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit.
PubMed ID: 7531341
PubMed ID: 8872460
Title: New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.
PubMed ID: 8872460
DOI: 10.1093/hmg/5.9.1217
PubMed ID: 8755487
Title: Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit.
PubMed ID: 8755487
PubMed ID: 9158150
Title: Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations.
PubMed ID: 9158150
DOI: 10.1093/hmg/6.5.753
PubMed ID: 10962020
Title: Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome.
PubMed ID: 10962020
PubMed ID: 12141316
Title: Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes.
PubMed ID: 12141316
DOI: 10.1212/wnl.59.2.162
PubMed ID: 22592360
Title: Highly fatal fast-channel syndrome caused by AChR epsilon subunit mutation at the agonist binding site.
PubMed ID: 22592360
PubMed ID: 27375219
Title: Mutations causing slow-channel myasthenia reveal that a valine ring in the channel pore of muscle AChR is optimized for stabilizing channel gating.
PubMed ID: 27375219
DOI: 10.1002/humu.23043
Sequence Information:
- Length: 493
- Mass: 54697
- Checksum: A34AF273AF8B31FE
- Sequence:
MARAPLGVLL LLGLLGRGVG KNEELRLYHH LFNNYDPGSR PVREPEDTVT ISLKVTLTNL ISLNEKEETL TTSVWIGIDW QDYRLNYSKD DFGGIETLRV PSELVWLPEI VLENNIDGQF GVAYDANVLV YEGGSVTWLP PAIYRSVCAV EVTYFPFDWQ NCSLIFRSQT YNAEEVEFTF AVDNDGKTIN KIDIDTEAYT ENGEWAIDFC PGVIRRHHGG ATDGPGETDV IYSLIIRRKP LFYVINIIVP CVLISGLVLL AYFLPAQAGG QKCTVSINVL LAQTVFLFLI AQKIPETSLS VPLLGRFLIF VMVVATLIVM NCVIVLNVSQ RTPTTHAMSP RLRHVLLELL PRLLGSPPPP EAPRAASPPR RASSVGLLLR AEELILKKPR SELVFEGQRH RQGTWTAAFC QSLGAAAPEV RCCVDAVNFV AESTRDQEAT GEEVSDWVRM GNALDNICFW AALVLFSVGS SLIFLGAYFN RVPDLPYAPC IQP
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.