Fukutin

FKTN
Identifiers
Aliases	FKTN, CMD1X, FCMD, LGMD2M, MDDGA4, MDDGB4, MDDGC4, fukutin
External IDs	OMIM: 607440 MGI: 2179507 HomoloGene: 31402 GeneCards: FKTN
Gene ontology Molecular function • transferase activity Cellular component • integral component of membrane • Golgi membrane • cis-Golgi network • Golgi apparatus • endoplasmic reticulum • nucleus • membrane • extracellular space Biological process • negative regulation of JNK cascade • protein glycosylation • muscle organ development • protein O-linked mannosylation • regulation of protein glycosylation • nervous system development • negative regulation of cell proliferation Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	2218	246179
Ensembl	ENSG00000106692	ENSMUSG00000028414
UniProt	O75072	Q8R507
RefSeq (mRNA)	NM_001079802 NM_001198963 NM_006731 NM_001351496 NM_001351497 NM_001351498 NM_001351499 NM_001351500 NM_001351501 NM_001351502	NM_139309
RefSeq (protein)	NP_001073270 NP_001185892 NP_006722 NP_001338425 NP_001338426 NP_001338427 NP_001338428 NP_001338429 NP_001338430 NP_001338431	NP_647470.1 NP_647470
Location (UCSC)	Chr 9: 105.56 – 105.64 Mb	Chr 4: 53.71 – 53.77 Mb
PubMed search

Fukutin-related
Identifiers
Symbol	Fukutin-related
Pfam	PF04991
InterPro	IPR009644
Available protein structures: Pfam structures PDB RCSB PDB; PDBe; PDBj PDBsum structure summary

Available protein structures:
Pfam	structures
PDB	RCSB PDB; PDBe; PDBj
PDBsum	structure summary

2218

246179

ENSG00000106692

ENSMUSG00000028414

O75072

Q8R507

NM_001351498
NM_001351499
NM_001351500
NM_001351501
NM_001351502

NM_139309

NP_001338427
NP_001338428
NP_001338429
NP_001338430
NP_001338431

NP_647470.1
NP_647470

Fukutin is a eukaryotic protein necessary for the maintenance of muscle integrity, cortical histogenesis, and normal ocular development. Mutations in the fukutin gene have been shown to result in Fukuyama congenital muscular dystrophy (FCMD) characterised by brain malformation - one of the most common autosomal-recessive disorders in Japan. In humans this protein is encoded by the FCMD gene (also named FKTN), located on chromosome 9q31. Human fukutin exhibits a length of 461 amino acids and a predicted molecular mass of 53.7 kDa.

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