FKRP

Chr 19AR

fukutin related protein

Also known as: FKTR, LGMD2I, LGMDR9, MDC1C, MDDGA5, MDDGB5, MDDGC5

NCBI Gene: 79147 ENSG00000181027 UniProt: Q9H9S5 OMIM: 606596

The protein is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations cause autosomal recessive muscular dystrophy-dystroglycanopathy with a spectrum ranging from severe congenital forms with brain and eye anomalies to milder limb-girdle presentations, often with cognitive disability and cerebellar cysts. The pathogenicity results from defective dystroglycan modification leading to impaired muscle membrane stability and brain development.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, cognitive disability, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5MIM #613153

Muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5MIM #606612

Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5MIM #607155

Clinical highlights

Gene-disease validity (ClinGen)

myopathy caused by variation in FKRP · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.32

LOEUF

LOF

Mechanism· G2P