FKRP

fukutin related protein

2 disorders 2 untyped 19q13.32 gene with protein product

HGNC:17997 Monarch NCBI Gene 79147 ENSG00000181027 UniProt Q9H9S5 OMIM 606596

Aliases: LGMD2I, MDC1C, FKTR.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Autosomal Recessive Limb-Girdle Muscular Dystrophy	untyped	mechanism: Sarcolemmal Instability and Failed Membrane Repair subtype: LGMDR9 scoped to subtype: LGMDR9
Dystroglycanopathy	untyped Causative	mechanism: Defective alpha-dystroglycan O-mannosyl glycosylation subtype: MDDG5 (FKRP)

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
myopathy caused by variation in FKRP MONDO:0700066	AR	Definitive 2024-08-13	no dismech entry

Mechanism modules · computed from kb/

pial_basement_membrane_radial_glial_endfoot_failure via Dystroglycanopathy named in the module itself
sarcolemmal_fragility_myofiber_necrosis via Autosomal Recessive Limb-Girdle Muscular Dystrophy

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.