Spinocerebellar ataxia, autosomal recessive 13; SCAR13

Disease ID:247
Name:Spinocerebellar ataxia, autosomal recessive 13; SCAR13
Associated with:1 target
Synonyms
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
Database Links
OMIM: 614831
Orphanet: ORPHA324262

Targets

mGlu1 receptor
Mutations:  mGlu1 receptor is associated with 2 mutation. Click here for details

Ligands

No ligand related data available for Spinocerebellar ataxia, autosomal recessive 13; SCAR13

References

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1. Guergueltcheva V, Azmanov DN, Angelicheva D, Smith KR, Chamova T, Florez L, Bynevelt M, Nguyen T, Cherninkova S, Bojinova V et al.. (2012) Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1. Am. J. Hum. Genet., 91 (3): 553-64. [PMID:22901947]