Evc Protein

From Anvita Health Wiki

Contents 1 Compartment 2 Expression 3 Pathology 4 More General Terms 5 Internet Database 6 References

Compartment

• membrane ( potential)

Expression

• found in the developing vertebral bodies, ribs, upper & lower limbs, heart, kidney, lung

Pathology

• defects associated with

• Ellis-van Creveld syndrome
• Weyers acrofacial dysostosis

More General Terms

• membrane protein

Internet Database

Entrez gene: 2121
Kegg: [1]
OMIM: 193530
OMIM: 225500
OMIM: 604831
UniProt: [2]

References

1. Ruiz-Perez VL et al Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nature Genetics 24:283-6, 2000 PMID: [3]
2. UniProt [4]
3. GeneReviews [5]

Ellis-van Creveld syndrome protein; DWF-1 (EVC)