About: MUSK wt Allele     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • MUSK wt Allele
equivalentClass
OMIM_Number
  • 601296
GenBank_Accession_Number
  • NM_005592
Semantic_Type
  • Gene or Genome
Preferred_Name
  • MUSK wt Allele
UMLS_CUI
  • C1705284
GO_Annotation
  • developmentGO:0007275TAS29-SEP-2003CGAP
  • integral to plasma membraneGO:0005887TAS29-SEP-2003CGAP
  • transmembrane receptor protein tyrosine kinase activityGO:0004714TAS29-SEP-2003CGAP
  • transmembrane receptor protein tyrosine kinase signaling pathwayGO:0007169TAS29-SEP-2003CGAP
  • muscle developmentGO:0007517TAS29-SEP-2003CGAP
EntrezGene_ID
  • 4593
Legacy_Concept_Name
  • MUSK_wt_Allele
HGNC_ID
  • HGNC:7525
FULL_SYN
  • Muscle, Skeletal, Receptor Tyrosine Kinase wt AlleleSYNCI
  • MUSK wt AllelePTNCI
  • MUSKSYNCI
Gene_Encodes_Product
  • Muscle-Specific Kinase
DEFINITION
  • Human MUSK wild-type allele is located within 9q31.3-q32 and is approximately 132 kb in length. This allele, which encodes muscle, skeletal receptor tyrosine protein kinase protein, plays a role in neuromuscular synaptogenesis.NCI
code
  • C52178
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