Homo sapiens Gene: FKTN | |||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Summary | |||||||||||||||
InnateDB Gene | IDBG-79683.6 | ||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||
Gene Symbol | FKTN | ||||||||||||||
Gene Name | fukutin | ||||||||||||||
Synonyms | CMD1X; FCMD; LGMD2M; MDDGA4; MDDGB4; MDDGC4 | ||||||||||||||
Species | Homo sapiens | ||||||||||||||
Ensembl Gene | ENSG00000106692 | ||||||||||||||
Encoded Proteins |
fukutin
fukutin
fukutin
fukutin
fukutin
fukutin
fukutin
|
||||||||||||||
Protein Structure | |||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||
Entrez Gene | |||||||||||||||
Summary |
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] |
||||||||||||||
Gene Information | |||||||||||||||
Type | Protein coding | ||||||||||||||
Genomic Location | Chromosome 9:105558130-105641118 | ||||||||||||||
Strand | Forward strand | ||||||||||||||
Band | q31.2 | ||||||||||||||
Transcripts | |||||||||||||||
Interactions | |||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
|
||||||||||||||
Gene Ontology | |||||||||||||||
Molecular Function |
|
||||||||||||||
Biological Process |
|
||||||||||||||
Cellular Component |
|
||||||||||||||
Orthologs | |||||||||||||||
Species
Mus musculus
Bos taurus
|
Gene ID
Gene Order
Not yet available
|
||||||||||||||
Cross-References | |||||||||||||||
SwissProt | O75072 | ||||||||||||||
TrEMBL | I7HFV8 | ||||||||||||||
UniProt Splice Variant | |||||||||||||||
Entrez Gene | 2218 | ||||||||||||||
UniGene | Hs.55777 | ||||||||||||||
RefSeq | NM_001198963 XM_006717010 NM_001079802 NM_006731 XM_005251803 XM_005251804 XM_006717006 XM_006717008 XM_006717009 | ||||||||||||||
HUGO | HGNC:3622 | ||||||||||||||
OMIM | 607440 | ||||||||||||||
CCDS | CCDS6766 | ||||||||||||||
HPRD | 06308 | ||||||||||||||
IMGT | |||||||||||||||
EMBL | AB008226 AB038490 AK300840 AL158070 BC101808 BC112038 BC117699 | ||||||||||||||
GenPept | AAI01809 AAI12039 AAI17700 BAA32000 BAA94082 BAG62491 CAC22162 | ||||||||||||||
RNA Seq Atlas | 2218 | ||||||||||||||