cryptic family protein 1B (CFC1B)
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Structure
contains 1 EGF-like domain
Compartment
Notes
- gene differs from CFC1B by only one residue at position 78:R -> W
- R78W is also thought to be a CFC1 polymorphism which leads to a different cell surface distribution & activity
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/P0CG36.html
- ↑ Goldmuntz E et al CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. Am J Hum Genet. 2002 Mar;70(3):776-80. Epub 2002 Jan 17 PMID: https://www.ncbi.nlm.nih.gov/pubmed/11799476
- ↑ Bamford RN et al Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. Nat Genet. 2000 Nov;26(3):365-9. PMID: https://www.ncbi.nlm.nih.gov/pubmed/11062482