Gene: POMT1

Alternate names for this Gene: LGMD2K|LGMDR11|MDDGA1|MDDGB1|MDDGC1|RT

Gene 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.

Gene is located in Chromosome: 9

Location in Chromosome : 9q34.13

Description of this Gene: protein O-mannosyltransferase 1

Type of Gene: protein-coding

Gene: LOC105376301

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

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rs150367385 in POMT1;LOC105376301 gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 PMID 16717220 2006 Expanding the clinical spectrum of POMT1 phenotype.

PMID 16575835 2006 The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.

PMID 19299310 2009 Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.

rs150367385 in POMT1;LOC105376301 gene and Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 PMID 15037715 2004 POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG.

PMID 12369018 2002 Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.

PMID 16575835 2006 The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.

PMID 15637732 2005 Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.

PMID 21078917 2010 Consensus statement on standard of care for congenital muscular dystrophies.