POMT1, Official Symbol POMT1provided by HGNC Official Full Name protein O-mannosyltransferase 1provided by HGNC Primary source HGNC:HGNC:9202 See related Ensembl:ENSG00000130714 MIM:607423; AllianceGenome:HGNC:9202 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RT; LGMD2K; MDDGA1; MDDGB1; MDDGC1; LGMDR11 Summary The 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.[provided by RefSeq, Oct 2008] Expression Broad expression in testis (RPKM 20.7), brain (RPKM 7.5) and 25 other tissues See more Orthologs mouse all