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An Entity of Type : dbo:Protein, within Data Space : live.dbpedia.org associated with source document(s)
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Limbin (LBN) is a protein that is part of the EvC complex that consists of EvC and EvC2 genes, the activity of which is critical in bone formation and skeletal development. The complex positively regulates ciliary Hedgehog (Hh) signaling due to the ciliary localization. Other characteristics accredited to a mutation in LBN include difficulty breathing due to shorted ribs, shortened tongue, dysplastic fingernails, and postaxial polydactyly.

AttributesValues
rdf:type
rdfs:label
  • Limbin
rdfs:comment
  • Limbin (LBN) is a protein that is part of the EvC complex that consists of EvC and EvC2 genes, the activity of which is critical in bone formation and skeletal development. The complex positively regulates ciliary Hedgehog (Hh) signaling due to the ciliary localization. Other characteristics accredited to a mutation in LBN include difficulty breathing due to shorted ribs, shortened tongue, dysplastic fingernails, and postaxial polydactyly.
sameAs
foaf:name
  • Ellis van Creveld syndrome 2 (limbin)
name
  • Ellis van Creveld syndrome 2
foaf:depiction
  • External Image
foaf:isPrimaryTopicOf
Wikipage page ID
Wikipage revision ID
Link from a Wikipage to another Wikipage
dbp:wikiPageUsesTemplate
Arm
  • p
band
Chromosome
EntrezGene
HGNCid
RefSeq
  • NM_147127
symbol
  • EVC2
UniProt
  • Q86UK5
OMIM
has abstract
  • Limbin (LBN) is a protein that is part of the EvC complex that consists of EvC and EvC2 genes, the activity of which is critical in bone formation and skeletal development. The complex positively regulates ciliary Hedgehog (Hh) signaling due to the ciliary localization. A mutation in these genes is associated with The Ellis-van Creveld (EvC) syndrome. EvC or otherwise known as Chondroestodermal dysplasia is a disorder inherited by the offspring of carriers of the mutated recessive gene and a non-mutated dominant gene leading to expression of chondrodysplasia and dwarfism. Bone growth occurs due to continuous proliferation and differentiation of chondrocytes along with endochondral ossification at both ends of a long bone. The mutations in LBN cause premature termination of encoded proteins resulting in shortening of long bones. Other characteristics accredited to a mutation in LBN include difficulty breathing due to shorted ribs, shortened tongue, dysplastic fingernails, and postaxial polydactyly.
prov:wasDerivedFrom
OMIM id
Symbol
  • EVC2
arm
  • p
band
  • 16.2-16.1
chromosome
  • 4
EntrezGene
  • 132884
HGNCid
  • 19747
RefSeq
  • NM_147127
UniProt
  • Q86UK5
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page length (characters) of wiki page
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