cryptic protein; cryptic family protein 1 (CFC1)
Jump to navigation
Jump to search
Function
- NODAL coreceptor involved in the correct establishment of the left-right axis
- may play a role in mesoderm &/or neural patterning during gastrulation
- N-glycosylated (putative)
Structure
contains 1 EGF-like domain
Compartment
- cell membrane; lipid-anchor, GPI-anchor
- secreted
- does not exhibit a typical GPI-signal sequence
- the C-terminal hydrophilic extension of the GPI-signal sequence reduces the efficiency of processing & could lead to the production of a secreted unprocessed form
- this extension is found only in primates
Pathology
- defects in CFC1 are the cause of: visceral heterotaxy autosomal type 2
- defects in CFC1 are a cause of
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/P0CG37.html
- ↑ GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/CFC1
- ↑ 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
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=55997
- OMIM: https://mirror.omim.org/entry/217095
- OMIM: https://mirror.omim.org/entry/605194
- OMIM: https://mirror.omim.org/entry/605376
- OMIM: https://mirror.omim.org/entry/608808
- UniProt: http://www.uniprot.org/uniprot/P0CG37.html