About: FBN1 wt Allele     Goto   Sponge   Distinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • FBN1 wt Allele
rdfs:subClassOf
OMIM_Number
  • 134797
GenBank_Accession_Number
  • X63556
Semantic_Type
  • Gene or Genome
Preferred_Name
  • FBN1 wt Allele
UMLS_CUI
  • C2700045
EntrezGene_ID
  • 2200
Legacy_Concept_Name
  • FBN1_wt_Allele
HGNC_ID
  • HGNC:3603
FULL_SYN
  • LIP2SYNCI
  • FBN1 wt AllelePTNCI
  • FBNSYNCI
  • SGSSYNCI
  • WMSSYNCI
  • OCTDSYNCI
  • MASSSYNCI
  • Fibrillin 1 wt AlleleSYNCI
DEFINITION
  • Human FBN1 wild-type allele is located in the vicinity of 15q21.1 and is approximately 237 kb in length. This allele, which encodes fibrillin-1 protein, plays a role in modulation of connective tissue structure. Mutations in the gene are associated with a number of congenital defects.NCI
DesignNote
  • Mutations in the FBN1 gene are involved in Marfan syndrome, isolated ectopia lentis, autosomal dominant Weill-Marchesani syndrome, MASS syndrome, and Shprintzen-Goldberg craniosynostosis syndrome. (Entrez Gene)
code
  • C75337
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