FKTN fukutin
Gene ID: 2218, updated on 2-Nov-2024Gene type: protein coding
Also known as: FCMD; CMD1X; LGMD2M; MDDGA4; MDDGB4; MDDGC4; LGMDR13
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- Go to complete Gene record for FKTN
- Go to Variation Viewer for FKTN variants
Summary
The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Autosomal recessive limb-girdle muscular dystrophy type 2M | See labs |
| Dilated cardiomyopathy 1X | See labs |
| Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. GeneReviews: Not available | |
| Meta-analysis of genome-wide association data identifies two loci influencing age at menarche. GeneReviews: Not available | |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | See labs |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | See labs |
| Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 | See labs |
| Primary dilated cardiomyopathy MedGen: C0007193GeneReviews: Dilated Cardiomyopathy Overview | See labs |
Genomic context
- Location:
- 9q31.2
- Sequence:
- Chromosome: 9; NC_000009.12 (105558130..105641118)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for FKTN variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- FKTN homepage - Leiden Muscular Dystrophy pages
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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