Gene: TSPAN1

Alternate names for this Gene: NET1|TM4C|TM4SF

Gene Summary: The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility.

Gene is located in Chromosome: 1

Location in Chromosome : 1p34.1

Description of this Gene: tetraspanin 1

Type of Gene: protein-coding

Gene: POMGNT1

Alternate names for this Gene: GNTI.2|GnT I.2|LGMD2O|LGMDR15|MEB|MGAT1.2|RP76|gnT-I.2

Gene Summary: This gene encodes a type II transmembrane protein that resides in the Golgi apparatus. It participates in O-mannosyl glycosylation and is specific for alpha linked terminal mannose. Mutations in this gene may be associated with muscle-eye-brain disease and several congenital muscular dystrophies. Alternatively spliced transcript variants that encode different protein isoforms have been described.

Gene is located in Chromosome: 1

Location in Chromosome : 1p34.1

Description of this Gene: protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)

Type of Gene: protein-coding

rs573518562 in TSPAN1;POMGNT1 gene and Dysmorphic features PMID 18195152 2008 Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.

PMID 24120487 2013 160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome.

PMID 27391550 2016 Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa.

PMID 17878207 2007 Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.

PMID 26908613 2016 Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.

PMID 22419172 2012 Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O.

rs193919335 in TSPAN1;POMGNT1 gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 PMID 15207699 2004 Structure-function analysis of human protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1, POMGnT1.

PMID 12588800 2003 Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.

PMID 15466003 2004 POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.

PMID 15236414 2004 POMGnT1 gene alterations in a family with neurological abnormalities.

PMID 11709191 2001 Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.

PMID 17030669 2006 POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.

PMID 12788071 2003 Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease.

PMID 19067344 2008 Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.

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

rs138642840 in TSPAN1;POMGNT1 gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 PMID 23326386 2013 Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.

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

PMID 11709191 2001 Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.

PMID 17030669 2006 POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.

PMID 19067344 2008 Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.

PMID 17878207 2007 Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.

PMID 22323514 2012 Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.

PMID 17559086 2007 Molecular heterogeneity in fetal forms of type II lissencephaly.

PMID 15466003 2004 POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.

PMID 24282183 2014 Clinical features and molecular characterization of a patient with muscle-eye-brain disease: a novel mutation in the POMGNT1 gene.

PMID 23689641 2013 Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients.

PMID 19679478 2009 An unusual presentation of muscle-eye-brain disease: severe eye abnormalities with mild muscle and brain involvement.

PMID 24731844 2014 Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1.

PMID 21361872 2011 Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease.

PMID 25390965 2012 Novel retinal findings in an infant with muscle-eye-brain disease.

PMID 15236414 2004 POMGnT1 gene alterations in a family with neurological abnormalities.

PMID 17906881 2007 Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.

rs138642840 in TSPAN1;POMGNT1 gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3 PMID 11709191 2001 Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.

PMID 23326386 2013 Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.

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

PMID 15466003 2004 POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.

PMID 17559086 2007 Molecular heterogeneity in fetal forms of type II lissencephaly.

PMID 17878207 2007 Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.

PMID 22323514 2012 Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.

PMID 17030669 2006 POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.

PMID 24282183 2014 Clinical features and molecular characterization of a patient with muscle-eye-brain disease: a novel mutation in the POMGNT1 gene.

PMID 19679478 2009 An unusual presentation of muscle-eye-brain disease: severe eye abnormalities with mild muscle and brain involvement.

PMID 24731844 2014 Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1.

PMID 23689641 2013 Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients.

PMID 21361872 2011 Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease.

PMID 25390965 2012 Novel retinal findings in an infant with muscle-eye-brain disease.

PMID 17906881 2007 Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.

PMID 15236414 2004 POMGnT1 gene alterations in a family with neurological abnormalities.

rs1048865247 in TSPAN1;POMGNT1 gene and Muscle eye brain disease PMID 22323514 2012 Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 11709191 2001 Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.

PMID 12788071 2003 Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease.

PMID 12849864 2003 Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents.

PMID 21361872 2011 Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease.

PMID 15236414 2004 POMGnT1 gene alterations in a family with neurological abnormalities.

PMID 20215985 2010 Muscle-Eye-Brain disease.

PMID 16427280 2006 Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts.

PMID 22522420 2012 ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.

PMID 17559086 2007 Molecular heterogeneity in fetal forms of type II lissencephaly.

PMID 27493216 2016 Carbohydrate-binding domain of the POMGnT1 stem region modulates O-mannosylation sites of α-dystroglycan.

PMID 17030669 2006 POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.

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

PMID 15466003 2004 POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.

PMID 19067344 2008 Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.

PMID 17906881 2007 Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.

PMID 24731844 2014 Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1.

PMID 17154333 2007 Both linkage analysis of the POMGNT1/1p32-p34 region and direct sequencing for the novel familial mutation (R605H) demonstrated that the fetus did not have MEB.

PMID 23689641 2013 Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients.

PMID 19679478 2009 An unusual presentation of muscle-eye-brain disease: severe eye abnormalities with mild muscle and brain involvement.

PMID 25390965 2012 Novel retinal findings in an infant with muscle-eye-brain disease.

PMID 17878207 2007 Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.

PMID 12588800 2003 Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.

rs138642840 in TSPAN1;POMGNT1 gene and RETINITIS PIGMENTOSA 76 PMID 11709191 2001 Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.

PMID 15466003 2004 POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.

PMID 15236414 2004 POMGnT1 gene alterations in a family with neurological abnormalities.

PMID 25390965 2012 Novel retinal findings in an infant with muscle-eye-brain disease.

PMID 17906881 2007 Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.

PMID 21361872 2011 Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease.

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

PMID 26908613 2016 Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.

PMID 27391550 2016 Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa.