Fukutin is a eukaryotic protein necessary for the maintenance of muscle

Muscle

Muscle is a contractile tissue of animals and is derived from the mesodermal layer of embryonic germ cells. Muscle cells contain contractile filaments that move past each other and change the size of the cell. They are classified as skeletal, cardiac, or smooth muscles. Their function is to...

 integrity, cortical

Cortex (anatomy)

In anatomy and zoology the cortex is the outermost layer of an organ. Organs with well-defined cortical layers include kidneys, adrenal glands, ovaries, the thymus, and portions of the brain, including the cerebral cortex, the most well-known of all cortices.The cerebellar cortex is the thin gray...

 histogenesis

Histogenesis

Histogenesis is the formation of different tissues from undifferentiated cells. These cells are constituents of three primary germ layers, the endoderm, mesoderm, and ectoderm...

, and normal ocular

Human eye

The human eye is an organ which reacts to light for several purposes. As a conscious sense organ, the eye allows vision. Rod and cone cells in the retina allow conscious light perception and vision including color differentiation and the perception of depth...

 development. Mutations in the fukutin gene have been shown to result in Fukuyama congenital muscular dystrophy

Fukuyama congenital muscular dystrophy

Fukuyama congenital muscular dystrophy is a rare, autosomal recessive form of muscular dystrophy mainly described in Japan...

 characterised by brain malformation - one of the most common autosomal-recessive disorders in Japan. In humans this protein is encoded by the FCMD gene

Gene

A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...

, located on chromosome

Chromosome

A chromosome is an organized structure of DNA and protein found in cells. It is a single piece of coiled DNA containing many genes, regulatory elements and other nucleotide sequences. Chromosomes also contain DNA-bound proteins, which serve to package the DNA and control its functions.Chromosomes...

 9q31.

Function

Fukutin is a putative transmembrane protein that is localized to the cis-Golgi

Golgi apparatus

The Golgi apparatus is an organelle found in most eukaryotic cells. It was identified in 1898 by the Italian physician Camillo Golgi, after whom the Golgi apparatus is named....

 compartment, where it may be involved in the glycosylation

Glycosylation

Glycosylation is the reaction in which a carbohydrate, i.e. a glycosyl donor, is attached to a hydroxyl or other functional group of another molecule . In biology glycosylation refers to the enzymatic process that attaches glycans to proteins, lipids, or other organic molecules...

 of alpha-dystroglycan

Dystroglycan

Dystroglycan is a protein that in humans is encoded by the DAG1 gene.Dystroglycan is one of the dystrophin-associated glycoproteins, which is encoded by a 5.5 kb transcript in Homo sapiens by chromosome 3. There are two exons that are separated by a large intron...

 in skeletal muscle. The encoded protein is thought to be a glycosyltransferase

Glycosyltransferase

Glycosyltransferases are enzymes that act as a catalyst for the transfer of a monosaccharide unit from an activated nucleotide sugar to a glycosyl acceptor molecule, usually an alcohol....

 and could play a role in brain development.

Clinical significance

Defects in this gene are a cause of Fukuyama congenital muscular dystrophy

Fukuyama congenital muscular dystrophy

Fukuyama congenital muscular dystrophy is a rare, autosomal recessive form of muscular dystrophy mainly described in Japan...

 (FCMD), Walker-Warburg syndrome

Walker-Warburg syndrome

Walker–Warburg syndrome , also called Warburg syndrome, Chemke syndrome, HARD syndrome , Pagon syndrome, cerebroocular dysgenesis or cerebroocular dysplasia-muscular dystrophy syndrome , is a rare form of autosomal recessive congenital muscular dystrophy...

 (WWS), limb-girdle muscular dystrophy

Limb-girdle muscular dystrophy

Limb-girdle muscular dystrophy or Erb's muscular dystrophy is an autosomal class of muscular dystrophy that is similar but distinct from Duchenne muscular dystrophy and Becker's muscular dystrophy...

 type 2M (LGMD2M), and dilated cardiomyopathy

Dilated cardiomyopathy

Dilated cardiomyopathy or DCM is a condition in which the heart becomes weakened and enlarged and cannot pump blood efficiently. The decreased heart function can affect the lungs, liver, and other body systems....

 type 1X (CMD1X).

External Links

• GeneReviews/NCBI/NIH/UW entry on Congenital Muscular Dystrophy Overview
• LOVD mutation database: FKTN