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
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