Details for: CHRND
Associated with
Other Information
Genular Protein ID: 293335746
Symbol: ACHD_HUMAN
Name: Acetylcholine receptor subunit delta
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 2564429
Title: A muscle acetylcholine receptor is expressed in the human cerebellar medulloblastoma cell line TE671.
PubMed ID: 2564429
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 15815621
Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
PubMed ID: 15815621
DOI: 10.1038/nature03466
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
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: 16916845
Title: CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn.
PubMed ID: 16916845
DOI: 10.1093/brain/awl188
PubMed ID: 18398509
Title: Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating.
PubMed ID: 18398509
DOI: 10.1172/jci34527
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
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: 11782989
Title: Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms.
PubMed ID: 11782989
DOI: 10.1002/ana.10077
PubMed ID: 11435464
Title: Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita.
PubMed ID: 11435464
DOI: 10.1172/jci12935
PubMed ID: 12499478
Title: Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation.
PubMed ID: 12499478
PubMed ID: 16959974
Title: The consensus coding sequences of human breast and colorectal cancers.
PubMed ID: 16959974
PubMed ID: 18252226
Title: Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.
PubMed ID: 18252226
Sequence Information:
- Length: 517
- Mass: 58895
- Checksum: 195CEF69358758BD
- Sequence:
MEGPVLTLGL LAALAVCGSW GLNEEERLIR HLFQEKGYNK ELRPVAHKEE SVDVALALTL SNLISLKEVE ETLTTNVWIE HGWTDNRLKW NAEEFGNISV LRLPPDMVWL PEIVLENNND GSFQISYSCN VLVYHYGFVY WLPPAIFRSS CPISVTYFPF DWQNCSLKFS SLKYTAKEIT LSLKQDAKEN RTYPVEWIII DPEGFTENGE WEIVHRPARV NVDPRAPLDS PSRQDITFYL IIRRKPLFYI INILVPCVLI SFMVNLVFYL PADSGEKTSV AISVLLAQSV FLLLISKRLP ATSMAIPLIG KFLLFGMVLV TMVVVICVIV LNIHFRTPST HVLSEGVKKL FLETLPELLH MSRPAEDGPS PGALVRRSSS LGYISKAEEY FLLKSRSDLM FEKQSERHGL ARRLTTARRP PASSEQAQQE LFNELKPAVD GANFIVNHMR DQNNYNEEKD SWNRVARTVD RLCLFVVTPV MVVGTAWIFL QGVYNQPPPQ PFPGDPYSYN VQDKRFI
Genular Protein ID: 4099709599
Symbol: B4E3W4_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Sequence Information:
- Length: 323
- Mass: 35465
- Checksum: 6573DD93F5FB7D9D
- Sequence:
MLKNLETSVS CASPRTWCGS QRLCWRTTMT APSRSPTPAT CLSTTTASCT GCHLPSSAPP APSLSPISPS TGRTAPSSSG GEKTSVAISV LLAQSVFLLL ISKRLPATSM AIPLIGKFLL FGMVLVTMVV VICVIVLNIH FRTPSTHVLS EGVKKLFLET LPELLHMSRP AEDGPSPGAL VRRSSSLGYI SKAEEYFLLK SRSDLMFEKQ SERHGLARRL TTARRPPASS EQAQQELFNE LKPAVDGANF IVNHMRDQNN YNEEKDSWNR VARTVDRLCL FVVTPVMVVG TAWIFLQGVY NQPPPQPFPG DPYSYNVQDK RFI
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.