Limbin

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Structures	Swiss-model
Domains	InterPro

Ellis van Creveld syndrome 2 (limbin)
Ellis van Creveld syndrome 2 (limbin)
Identifiers
Symbol	EVC2
NCBI gene	132884
HGNC	19747
OMIM	607261
RefSeq	NM_147127
UniProt	Q86UK5
Other data
Locus	Chr. 4 p16.2-16.1
Structures
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Structures	Swiss-model
Domains	InterPro

Limbin
Identifiers
Aliases	IPR022076EVC2
External IDs	GeneCards:
Orthologs
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	Wikidata
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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.[1]

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.[2] 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.[1]

References

Zhang H, Takeda H, Tsuji T, Kamiya N, Rajderkar S, Louie K, et al. (September 2015). "Generation of Evc2/Limbin global and conditional KO mice and its roles during mineralized tissue formation". Genesis. 53 (9): 612–626. doi:10.1002/dvg.22879. PMC 4731321. PMID 26219237.
Takeda H, Takami M, Oguni T, Tsuji T, Yoneda K, Sato H, et al. (August 2002). "Positional cloning of the gene LIMBIN responsible for bovine chondrodysplastic dwarfism". Proceedings of the National Academy of Sciences of the United States of America. 99 (16): 10549–54. Bibcode:2002PNAS...9910549T. doi:10.1073/pnas.152337899. PMC 124971. PMID 12136126.

External links

EVC2+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

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[Zhang_2015-1] Zhang H, Takeda H, Tsuji T, Kamiya N, Rajderkar S, Louie K, et al. (September 2015). "Generation of Evc2/Limbin global and conditional KO mice and its roles during mineralized tissue formation". Genesis. 53 (9): 612–626. doi:10.1002/dvg.22879. PMC 4731321. PMID 26219237.

[Takeda_2002-2] Takeda H, Takami M, Oguni T, Tsuji T, Yoneda K, Sato H, et al. (August 2002). "Positional cloning of the gene LIMBIN responsible for bovine chondrodysplastic dwarfism". Proceedings of the National Academy of Sciences of the United States of America. 99 (16): 10549–54. Bibcode:2002PNAS...9910549T. doi:10.1073/pnas.152337899. PMC 124971. PMID 12136126.