FKTN, fukutin

FKTN, fukutin

• 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 Synonyms (CMD1X, FCMD, LGMD2M, LGMDR13, MDDGA4, MDDGB4, MDDGC4, fukutin, Fukuyama type congenital muscular dystrophy protein, patient fukutin, ribitol-5-phosphate transferase,)
• NCBI Gene ID: 2218
• Species: Homo sapiens (Human)
• UNIPROT ID#>>B4E2W4
  UNIPROT ID#>>O75072
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

fukutin interacts with:

• beta-1,4-glucuronyltransferase 1
  CCHC-type zinc finger nucleic acid binding protein
  major histocompatibility complex, class II, DP alpha 1
  ribitol xylosyltransferase 1

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.