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Gene

FKRP

fukutin related protein

Summary

Cytogenetic location
19q13.32
Coordinates
Chromosome 19: 46,746,057–46,758,575 (GRCh38)
Exons
4 exons across 12.5 kb
Protein
495 amino acids
Inheritance
Autosomal recessive
Also known as
LGMD2I, MDC1C, FKTR
MANE Select transcript
ENST00000318584.10NM_024301.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Congenital Muscular Dystrophies

    • Congenital muscular dystrophy

      A group of muscular dystrophies with onset at birth or in infancy, including dystroglycanopathies (such as FKRP, FKTN and POMT1/2-related forms).

      • 7 GenCC submitters rate it definitive or strong

  • Congenital Disorders of Glycosylation

    • Alpha-DystroglycanopathiesAutosomal recessive

      Muscle diseases caused by faulty sugar attachment (O-mannosylation) to alpha-dystroglycan, ranging from severe congenital muscular dystrophy with brain and eye involvement to milder limb-girdle weakness; also covered in more detail in the Congenital Muscular Dystrophies report.

      • 5 GenCC submitters rate it definitive or strong
    • Congenital Disorders of Glycosylation (CDG)

      One of 98 genes linked to it

      A large group of inherited conditions in which sugar chains (glycans) are not correctly built or attached to proteins and lipids, often affecting the brain, liver, blood clotting, growth and many other body systems. Most are autosomal recessive, but some are X-linked or autosomal dominant.

      • ClinGen rates the link definitive
      • 8 GenCC submitters rate it definitive or strong

  • Limb-Girdle Muscular Dystrophy

    • Limb-girdle Muscular Dystrophy is defined as a collection of numerous subtypes with differing inheritance patterns (with diagnostic sufficiency being varied too). Carriers of variants related to the condition should seek guidance from a muscular-skeletal specialist for a definitive diagnosis.

      • 3 GenCC submitters rate it definitive or strong

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How FKRP is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 19, with a bracket where FKRP sits. FKRP and 20 genes near it on chromosome 19, from 46,252,316 to 47,252,315.Chromosome 1919q13.32p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.4346.4 Mb46.6 Mb46.8 Mb47 Mb47.2 MbHIF3A: 46,297,026–46,343,433, forward strandHIF3APPP5C: 46,346,994–46,393,000, forward strandPPP5CCCDC8: 46,410,329–46,413,564, reverse strandCCDC8PNMA8C: 46,424,697–46,428,936, reverse strandPNMA8CPNMA8A: 46,466,491–46,471,572, reverse strandPNMA8APNMA8B: 46,486,906–46,495,879, reverse strandPNMA8BCALM3: 46,601,074–46,610,795, forward strandCALM3PTGIR: 46,618,550–46,625,534, reverse strandPTGIRGNG8: 46,633,947–46,639,623, reverse strandGNG8DACT3: 46,646,872–46,661,199, reverse strandDACT3PRKD2: 46,673,661–46,717,144, reverse strandPRKD2STRN4: 46,719,507–46,746,994, reverse strandSTRN4FKRP: 46,746,057–46,758,575, forward strandFKRPSLC1A5: 46,758,394–46,788,617, reverse strandSLC1A5AP2S1: 46,838,136–46,850,962, reverse strandAP2S1ARHGAP35: 46,860,433–47,005,077, forward strandARHGAP35NPAS1: 47,019,474–47,047,242, forward strandNPAS1TMEM160: 47,045,909–47,048,650, reverse strandTMEM160ZC3H4: 47,064,187–47,113,776, reverse strandZC3H4SAE1: 47,113,274–47,210,636, forward strandSAE1BBC3: 47,220,822–47,233,019, reverse strandBBC3Diagram of FKRP: 4 exons on the forward strand of chromosome 19Exon 1: 1 known disease-causing siteExon 4: 192 known disease-causing sitesExon 1: 46,746,057–46,746,090, 34 basesExon 2: 46,748,027–46,748,088, 62 basesExon 3: 46,748,515–46,748,665, 151 basesExon 4: 46,755,412–46,758,575, 3,164 bases12345′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 3.4 kb of the gene's 12.5 kb; 1,488 of those bases code for the protein.

How a genome test reads FKRP

194

positions in FKRP where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 12.5 kb of FKRP, introns included, not only the 3.4 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). FKRP gene: fukutin related protein. Retrieved 17 October 2026, from https://dantelabs.com/genes/fkrp

Vancouver

Dante Labs. FKRP gene: fukutin related protein [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/fkrp

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