Fukutin

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

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

FKTN
Identifiers
Aliases	FKTN, CMD1X, FCMD, LGMD2M, MDDGA4, MDDGB4, MDDGC4, fukutin, LGMDR13
External IDs	OMIM: 607440; MGI: 2179507; HomoloGene: 31402; GeneCards: FKTN; OMA:FKTN - orthologs
Gene location (Human)
Chr.	Chromosome 9 (human)
End	105,653,820 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	53,777,890 bp
RNA expression pattern
	Top expressed in
	Achilles tendon; ; germinal epithelium; ; testicle; ; ventricular zone; ; skin of hip; ; Region I of hippocampus proper; ; mucosa of paranasal sinus; ; stromal cell of endometrium; ; body of pancreas; ; corpus callosum;
	Top expressed in
	epithelium of lens; ; seminal vesicula; ; Rostral migratory stream; ; Epithelium of choroid plexus; ; interventricular septum; ; trigeminal ganglion; ; olfactory epithelium; ; spermatocyte; ; vestibular membrane of cochlear duct; ; substantia nigra;
	More reference expression data
	n/a
Gene ontology
Molecular function	transferase activity; protein binding;
Cellular component	integral component of membrane; Golgi membrane; cis-Golgi network; Golgi apparatus; endoplasmic reticulum; nucleus; membrane; extracellular space; integral component of Golgi membrane; cytoplasm;
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 population proliferation; protein O-linked glycosylation;
	Sources:Amigo / QuickGO
Orthologs
	2218
	246179
	ENSG00000106692
	ENSMUSG00000028414
	O75072
	Q8R507
NM_001079802; NM_001198963; NM_006731; NM_001351496; NM_001351497;
	NM_001351498; NM_001351499; NM_001351500; NM_001351501; NM_001351502
	NM_139309; NM_001363126; NM_001363127; NM_001363128
NP_001073270; NP_001185892; NP_006722; NP_001338425; NP_001338426;
	NP_001338427; NP_001338428; NP_001338429; NP_001338430; NP_001338431
	NP_647470; NP_001350055; NP_001350056; NP_001350057
	Wikidata
View/Edit Human	View/Edit Mouse

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.