SCP2 sterol-binding domain-containing protein 1; protein C20orf79 (SCP2D1, C20orf79)
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Function
Structure
contains 1 SCP2 domain
Pathology
- p.Pro99Ser variant of C20orf79 associated with posterior polymorphous corneal dystrophy type 1[3]
More general terms
References
- ↑ OMIM https://mirror.omim.org/entry/609140
- ↑ OMIM https://mirror.omim.org/entry/609141
- ↑ 3.0 3.1 Aldave AJ et al Exclusion of positional candidate gene coding region mutations in the common posterior polymorphous corneal dystrophy 1 candidate gene interval. Cornea. 2009 Aug;28(7):801-7. PMID: https://www.ncbi.nlm.nih.gov/pubmed/19574904
- ↑ 4.0 4.1 Edqvist J, Blomqvist K. Fusion and fission, the evolution of sterol carrier protein-2. J Mol Evol. 2006 Mar;62(3):292-306. Epub 2006 Feb 20. PMID: https://www.ncbi.nlm.nih.gov/pubmed/16501878
- ↑ UniProt http://www.uniprot.org/uniprot/Q9UJQ7.html