cryptic family protein 1B (CFC1B)

From Aaushi
Jump to navigation Jump to search

Structure

contains 1 EGF-like domain

Compartment

secreted (putative)

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

  1. UniProt http://www.uniprot.org/uniprot/P0CG36.html
  2. 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
  3. 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

Database