FKTN Chromosome 9
Fukutin
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What This Gene Does
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 (23)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A
4
Dilated cardiomyopathy 1X
Walker-Warburg congenital muscular dystrophy
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2M
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability)
type B4
FKTN-related disorder
Ventricular tachycardia
Cardiomyopathy
type A1
Hypertrophic cardiomyopathy
Myopathy caused by variation in FKTN
Clear cell carcinoma of kidney
Colon adenocarcinoma
Lymphoma
Familial cancer of breast
Muscular dystrophy-dystroglycanopathy
+3 more conditions
Key Variants
RS114655654
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Health Risk
RS115155934
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
Health Risk
RS115730708
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Health Risk
RS116107812
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Health Risk
RS116364105
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Health Risk
RS116549376
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
Health Risk
RS117283748
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Health Risk
RS119463994
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1X, Walker-Warburg congenital muscular dystrophy, Dilated cardiomyopathy 1X
Health Risk
RS119464998
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Health Risk
RS1222153269
Conflicting classifications of pathogenicity
Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy
Health Risk
RS1293245717
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Health Risk
RS1338220455
Conflicting classifications of pathogenicity
Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy
Health Risk
All Variants (219)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS119463990 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS119463991 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS119463993 | Health Risk | Pathogenic | Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X |
| RS1309132512 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS1430884213 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS1438288380 | Health Risk | Pathogenic | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS1458332751 | Health Risk | Pathogenic | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS1554754678 | Health Risk | Pathogenic | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS1554761310 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS1554766898 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS1564290459 | Health Risk | Pathogenic | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS1588110929 | Health Risk | Pathogenic | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS1588222870 | Health Risk | Pathogenic | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS2132018294 | Health Risk | Pathogenic | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS2132704748 | Health Risk | Pathogenic | Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy |
| RS2132791309 | Health Risk | Pathogenic | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS2132792099 | Health Risk | Pathogenic | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS2132792659 | Health Risk | Pathogenic | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS2132800552 | Health Risk | Pathogenic | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS2133160637 | Health Risk | Pathogenic | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS2133450854 | Health Risk | Pathogenic | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS2538818350 | Health Risk | Pathogenic | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS2539234389 | Health Risk | Pathogenic | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS2539334846 | Health Risk | Pathogenic | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS2539402070 | Health Risk | Pathogenic | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS2539406491 | Health Risk | Pathogenic | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS2539406905 | Health Risk | Pathogenic | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS2539414037 | Health Risk | Pathogenic | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS2539414072 | Health Risk | Pathogenic | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS2539494607 | Health Risk | Pathogenic | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS2539656282 | Health Risk | Pathogenic | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS2539657496 | Health Risk | Pathogenic | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS2539710750 | Health Risk | Pathogenic | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS2539749192 | Health Risk | Pathogenic | Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X |
| RS2539985441 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS369797361 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS398123555 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS557096550 | Health Risk | Pathogenic | Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X |
| RS587777748 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS587777813 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS587777814 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2M, Autosomal recessive limb-girdle muscular dystrophy type 2M |
| RS746763506 | Health Risk | Pathogenic | Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS754081311 | Health Risk | Pathogenic | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS773884973 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS970907026 | Health Risk | Pathogenic | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS119463992 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2M, Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS119463996 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 |
| RS1203741361 | Health Risk | Pathogenic/Likely pathogenic | Walker-Warburg congenital muscular dystrophy, Dilated cardiomyopathy 1X, Walker-Warburg congenital muscular dystrophy |
| RS1376019203 | Health Risk | Pathogenic/Likely pathogenic | Walker-Warburg congenital muscular dystrophy, Dilated cardiomyopathy 1X, Walker-Warburg congenital muscular dystrophy |
| RS1485613887 | Health Risk | Pathogenic/Likely pathogenic | Walker-Warburg congenital muscular dystrophy, Dilated cardiomyopathy 1X, Walker-Warburg congenital muscular dystrophy |