FKTN (fukutin)

2016-10-01  

Identity

HGNC
LOCATION
9q31.2
LOCUSID
ALIAS
CMD1X,FCMD,LGMD2M,LGMDR13,MDDGA4,MDDGB4,MDDGC4
FUSION GENES

Other Information

Locus ID:

NCBI: 2218
MIM: 607440
HGNC: 3622
Ensembl: ENSG00000106692

Variants:

dbSNP: 2218
ClinVar: 2218
TCGA: ENSG00000106692
COSMIC: FKTN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000106692ENST00000223528O75072
ENSG00000106692ENST00000357998O75072
ENSG00000106692ENST00000374705I7HPB4
ENSG00000106692ENST00000448551O75072
ENSG00000106692ENST00000457847H7C3W5
ENSG00000106692ENST00000602526R4GMU0
ENSG00000106692ENST00000602661O75072
ENSG00000106692ENST00000642177A0A2R8Y768
ENSG00000106692ENST00000642537A0A2R8Y7E3
ENSG00000106692ENST00000642644A0A2R8Y6X6
ENSG00000106692ENST00000642952A0A2R8Y4L5
ENSG00000106692ENST00000644273A0A2R8YDW9
ENSG00000106692ENST00000645933A0A2R8Y6X6

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Metabolic pathwaysKEGGhsa01100
Mannose type O-glycan biosynthesisKEGGko00515
Mannose type O-glycan biosynthesisKEGGhsa00515

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
178782072007Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.125
269235852016Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy.63
192993102009Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.54
146276792003A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.38
271941012016ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan.37
187522642008Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.19
152132462004Subcellular localization of fukutin and fukutin-related protein in muscle cells.18
191790782009Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype.9
209617582011Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.9
181774722008Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome.8

Citation

Dessen P

FKTN (fukutin)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/55979/fktn