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Gene Review:

Fkrp - fukutin related protein

Mus musculus

Synonyms: A830029B19Rik, AI842067, AI847300, Fukutin-related protein, LGMD1I, ...

Esapa, C.T. et al.

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Disease relevance of Fkrp

The P448L mutation in FKRP that causes congenital muscular dystrophy changes a conserved amino acid resulting in the mislocalization of the mutant protein in the cell that is unable to alter dystroglycan processing [1].
Additionally, mutations in the FKRP gene also cause limb-girdle muscular dystrophy type 2I (LGMD2I), a considerably milder allelic variant than MDC1C [1].

High impact information on Fkrp

Aberrant processing of dystroglycan caused by a mislocalized FKRP mutant could be a novel mechanism that causes congenital muscular dystrophy [1].

Anatomical context of Fkrp

Overexpression of FKRP in CHO cells alters the post-translational processing of alpha- and beta-dystroglycan inhibiting maturation of the two isoforms [1].

References

Functional requirements for fukutin-related protein in the Golgi apparatus. Esapa, C.T., Benson, M.A., Schröder, J.E., Martin-Rendon, E., Brockington, M., Brown, S.C., Muntoni, F., Kröger, S., Blake, D.J. Hum. Mol. Genet. (2002) [Pubmed]

Contributions to this collaborative article are from individual authors of WikiGenes or mined by the WikiGenes Data Mining Engine from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.About WikiGenes Open Access Licence Privacy Policy Terms of Use apsburg

AgaP_AGAP008690	Anopheles gambiae str. PEST
FKRP	Bos taurus
FKRP	Canis lupus familiaris
fkrp	Danio rerio
CG15651	Drosophila melanogaster
FKRP	Homo sapiens
FKRP	Macaca mulatta
FKRP	Pan troglodytes
Fkrp	Rattus norvegicus
fkrp	Xenopus (Silurana) tropicalis

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