About: Limbin

An Entity of Type: gene, from Named Graph: http://dbpedia.org, within Data Space: dbpedia.org

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.

Property	Value
dbo: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. (en)
dbo:wikiPageID	12969283 (xsd:integer)
dbo:wikiPageLength	2693 (xsd:nonNegativeInteger)
dbo:wikiPageRevisionID	1079521938 (xsd:integer)
dbo:wikiPageWikiLink	dbr:Endochondral_ossification dbr:Dysplastic_nail dbr:Ellis–van_Creveld_syndrome dbr:Osteochondrodysplasia dbr:Dwarfism dbr:Hedgehog_signaling_pathway dbr:Polydactyly
dbp:arm	p (en)
dbp:band	16.200000 (xsd:double)
dbp:chromosome	4 (xsd:integer)
dbp:entrezgene	132884 (xsd:integer)
dbp:hgncid	19747 (xsd:integer)
dbp:name	Ellis van Creveld syndrome 2 (en)
dbp:omim	607261 (xsd:integer)
dbp:refseq	NM_147127 (en)
dbp:symbol	EVC2 (en)
dbp:uniprot	Q86UK5 (en)
dbp:wikiPageUsesTemplate	dbt:Biochemistry-stub dbt:Infobox_gene dbt:MeshName dbt:Reflist dbt:Short_description dbt:Protein
rdf:type	owl:Thing dbo:Biomolecule dbo:Gene wikidata:Q206229 wikidata:Q7187 dbo:HumanGene
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. (en)
rdfs:label	Limbin (en)
owl:sameAs	wikidata:Limbin http://bs.dbpedia.org/resource/EVC2 https://global.dbpedia.org/id/2LKbU
prov:wasDerivedFrom	wikipedia-en:Limbin?oldid=1079521938&ns=0
foaf:isPrimaryTopicOf	wikipedia-en:Limbin
is dbo:wikiPageRedirects of	dbr:EVC2
is dbo:wikiPageWikiLink of	dbr:Chromosome_4 dbr:EVC2 dbr:Mongpawn
is foaf:primaryTopic of	wikipedia-en:Limbin