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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for POMT1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID10585
Official gene symbolPOMT1
Full nameprotein-O-mannosyltransferase 1
Aliases,FLJ37239,LGMD2K,RT,
Gene summaryThe protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.
LocationChromosome: 9   Locus: 9q34.1
Gene position134378289 - 134399193  Map Viewer
Gene orientationplus
Gene size20905 bp
Gene sequence
OMIM ID607423