limbin (EVC2, LBN)

Function

• role in bone formation & skeletal development

Compartment

membrane

Alternative splicing

named isoforms=3

Expression

• expressed in heart, placenta, lung, liver, skeletal muscle, kidney, pancreas

Pathology

• defects in EVC2 are a cause of Ellis-van Creveld syndrome
• defects in EVC2 are a cause of Weyers acrofacial dysostosis

More general terms

• membrane protein

Database

• OMIM: https://mirror.omim.org/entry/193530
• OMIM: https://mirror.omim.org/entry/225500
• OMIM: https://mirror.omim.org/entry/607261
• UniProt: http://www.uniprot.org/uniprot/Q86UK5.html