Sequence Detail

ID/Version

Q8R507 Q8VD64 (UniProt | EBI)

Last sequence update: 2002-06-01
Last annotation update: 2024-07-24

Sequence description from provider

RecName: Full=Ribitol-5-phosphate transferase FKTN {ECO:0000305}; EC=2.7.8.- {ECO:0000250|UniProtKB:O75072};AltName: Full=Fukutin {ECO:0000303|PubMed:12408965};AltName: Full=Fukuyama-type congenital muscular dystrophy protein {ECO:0000250|UniProtK

Provider

SWISS-PROT

Sequence

Polypeptide 461 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Fktn	fukutin	36	107	3	12

Sequence references in MGI

J:80093 Horie M, et al., Isolation and characterization of the mouse ortholog of the Fukuyama-type congenital muscular dystrophy gene. Genomics. 2002 Nov;80(5):482-6
J:80808 Esapa CT, et al., Functional requirements for fukutin-related protein in the Golgi apparatus. Hum Mol Genet. 2002 Dec 15;11(26):3319-31
J:82929 Henion TR, et al., Expression of dystroglycan, fukutin and POMGnT1 during mouse cerebellar development. Brain Res Mol Brain Res. 2003 Apr 10;112(1-2):177-81
J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
J:144746 Kanagawa M, et al., Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy. Hum Mol Genet. 2009 Feb 15;18(4):621-31
J:187144 Beedle AM, et al., Mouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophy. J Clin Invest. 2012 Sep 4;122(9):3330-42