Fukutin

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.

FKTN
Identifiers
Aliases	FKTN, CMD1X, FCMD, LGMD2M, MDDGA4, MDDGB4, MDDGC4, fukutin, LGMDR13
External IDs	OMIM: 607440 MGI: 2179507 HomoloGene: 31402 GeneCards: FKTN
Gene location (Human) Chr. Chromosome 9 (human) Band 9q31.2 Start 105,558,122 bp End 105,653,820 bp
Gene location (Mouse) Chr. Chromosome 4 (mouse) Band 4 B2|4 28.74 cM Start 53,713,998 bp End 53,777,890 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon germinal epithelium Region I of hippocampus proper stromal cell of endometrium body of pancreas corpus callosum rectum ganglionic eminence sural nerve islet of Langerhans Top expressed in seminal vesicula interventricular septum trigeminal ganglion olfactory epithelium spermatocyte substantia nigra anterior horn of spinal cord nucleus accumbens seminiferous tubule myocardium of ventricle More reference expression data BioGPS 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 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 NM_001363126 NM_001363127 NM_001363128 RefSeq (protein) 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 Location (UCSC) Chr 9: 105.56 – 105.65 Mb Chr 4: 53.71 – 53.78 Mb PubMed search
Wikidata
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Although its function is mostly unknown, fukutin is a putative transmembrane protein that is ubiquitously expressed, although at higher levels in skeletal muscle, heart and brain. It is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of α-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Fukutin is expressed in the mammalian retina and is located in the Golgi complex of retinal neurons.

Defects in this gene are a cause of Fukuyama congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X).

• Fukutin-related protein