Fukutin-related protein
Fukutin-related protein (FKRP) is a protein associated with congenital muscular dystrophy.[1]
| fukutin related protein | |||||||
|---|---|---|---|---|---|---|---|
| Identifiers | |||||||
| Symbol | FKRP | ||||||
| NCBI gene | 79147 | ||||||
| HGNC | 17997 | ||||||
| OMIM | 606596 | ||||||
| RefSeq | NM_024301 | ||||||
| UniProt | Q9H9S5 | ||||||
| Other data | |||||||
| Locus | Chr. 19 q13.3 | ||||||
| |||||||
See also
References
- Mercuri E, Topaloglu H, Brockington M, et al. (February 2006). "Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations". Arch. Neurol. 63 (2): 251–7. doi:10.1001/archneur.63.2.251. PMID 16476814.
External links
- GeneReviews/NCBI/NIH/UW entry on Congenital Muscular Dystrophy Overview
- LOVD mutation database: FKRP
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.