EVC2
Ellis van Creveld syndrome 2
Synonyms:
LBN
Species:
Human EVC2 (132884), Mouse Evc2 (68525), Rat Evc2 (289711), chicken EVC2 (770095), sheep EVC2 (101102904), domestic cat EVC2 (101092761), dog EVC2 (611156), naked mole-rat Evc2 (101718549), domestic guinea pig Evc2 (100731709), cow EVC2 (280834)
UniProtKB ID:
Gene ID:
- Human(132884) Summary: This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
- Mouse(68525) Ellis van Creveld syndrome 2
- Rat(289711) Ellis van Creveld syndrome 2
- chicken(770095) Ellis van Creveld syndrome 2
- sheep(101102904) Ellis van Creveld syndrome 2
- domestic cat(101092761) Ellis van Creveld syndrome 2
- dog(611156) Ellis van Creveld syndrome 2
- naked mole-rat(101718549) Ellis van Creveld syndrome 2
- domestic guinea pig(100731709) Ellis van Creveld syndrome 2
- cow(280834) Ellis van Creveld syndrome 2
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Antibodies
Product Number
Description
Species Reactivity
Application
Anti-EVC2 (C-terminal) antibody produced in goat, affinity isolated antibody, buffered aqueous solution,
Species Reactivity
human
Application
ELISA
immunohistochemistry
immunohistochemistry
Anti-EVC2 antibody produced in rabbit, Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution,
Species Reactivity
human
Application
immunofluorescence
immunohistochemistry
immunohistochemistry
Anti-EVC2 antibody produced in rabbit, Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution,
Species Reactivity
human
Application
immunohistochemistry