FKTN Gene Summary [Human]
The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2010]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | FKTN |
| Official Name | fukutin [Source:HGNC Symbol;Acc:HGNC:3622] |
| Ensembl ID | ENSG00000106692 |
| Bio databases IDs | |
| Aliases | fukutin |
| Synonyms | CMD1X, D830030O17Rik, FCMD, FUKUTIN, LGMD2M, LGMDR13, LOC105376200, MDDGA4, MDDGB4, MDDGC4 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human FKTN often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- substituted phosphate group transferase
- enzyme
- protein binding
- Fukutin N-terminal
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Walker-Warburg syndrome
- limb-girdle muscular dystrophy type 2M
- Fukuyama congenital muscular dystrophy
- dilated cardiomyopathy 1x
- muscular dystrophy-dystroglycanopathy (congenital without mental retardation) type B4
- familial primary dilated cardiomyopathy
- spondylarthritis
- myocardial infarction
- type 2 lissencephaly
- dystroglycanopathy
role in cell
- proliferation
- differentiation
- formation
- organization
- glycosylation in
- modification in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Extracellular Space
- Nucleus
- Golgi Apparatus
- Endoplasmic Reticulum
- Golgi membrane
- cis Golgi networks
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FKTN gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- muscle organ development
- protein O-linked glycosylation
- negative regulation of cell proliferation
- protein glycosylation
- nervous system development
- negative regulation of JNK cascade
- regulation of protein glycosylation
- protein O-linked mannosylation
Cellular Component
Where in the cell the gene product is active
- nucleus
- extracellular space
- cis-Golgi network
- endoplasmic reticulum
- Golgi apparatus
- Golgi membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- phosphotransferase activity, for other substituted phosphate groups