Gene: GNE

Alternate names for this Gene: DMRV|GLCNE|IBM2|NM|Uae1

Gene Summary: The protein encoded by this gene is a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting enzyme in the sialic acid biosynthetic pathway. Sialic acid modification of cell surface molecules is crucial for their function in many biologic processes, including cell adhesion and signal transduction. Differential sialylation of cell surface molecules is also implicated in the tumorigenicity and metastatic behavior of malignant cells. Mutations in this gene are associated with sialuria, autosomal recessive inclusion body myopathy, and Nonaka myopathy. Alternative splicing of this gene results in transcript variants encoding different isoforms.

Gene is located in Chromosome: 9

Location in Chromosome : 9p13.3

Description of this Gene: glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase

Type of Gene: protein-coding

Gene: CLTA

Alternate names for this Gene: LCA

Gene Summary: Clathrin is a large, soluble protein composed of heavy and light chains. It functions as the main structural component of the lattice-type cytoplasmic face of coated pits and vesicles which entrap specific macromolecules during receptor-mediated endocytosis. This gene encodes one of two clathrin light chain proteins which are believed to function as regulatory elements. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 8 and 12.

Gene is located in Chromosome: 9

Location in Chromosome : 9p13.3

Description of this Gene: clathrin light chain A

Type of Gene: protein-coding

rs1057516657 in GNE;CLTA gene and NONAKA MYOPATHY PMID 24737350 2014 A family with distal myopathy with rimmed vacuoles associated with thrombocytopenia.

PMID 15330759 2004 Domain-specific characteristics of the bifunctional key enzyme of sialic acid biosynthesis, UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase.

PMID 23437777 2013 Novel GNE mutations in autosomal recessive hereditary inclusion body myopathy patients.

PMID 12473753 2002 Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.

PMID 12325084 2002 A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees.

PMID 11916006 2002 Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE).

PMID 12497639 2003 Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.

PMID 12913203 2003 GNE mutations causing distal myopathy with rimmed vacuoles with inflammation.

PMID 12473780 2002 An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene.

PMID 12473769 2002 GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM.

PMID 11528398 2001 The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.

PMID 12409274 2002 Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737).

PMID 12177386 2002 Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.

PMID 12811782 2003 Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy.

PMID 15146476 2004 Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy.

PMID 11916006 2002 Sequence and haplotype analyses of GNE in two siblings with Nonaka myopathy from a Japanese family revealed that both patients were compound heterozygotes for a C-->T transition (A460V) in exon 8 and a G-->C transition (V572L) in exon 10.

PMID 12325084 2002 To investigate whether DMRV and HIBM are allelic diseases, we conducted mutational analysis of the GNE gene of six Japanese DMRV pedigrees and found that all the pedigrees share a homozygous mutation (V572L) associated with a strong linkage disequilibrium, suggesting a strong founder effect in Japanese DMRV pedigrees.

PMID 11916006 2002 Sequence and haplotype analyses of GNE in two siblings with Nonaka myopathy from a Japanese family revealed that both patients were compound heterozygotes for a C-->T transition (A460V) in exon 8 and a G-->C transition (V572L) in exon 10.

PMID 24027297 2014 Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy).

PMID 25986339 2015 Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy.

PMID 27858732 2015 Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy.

PMID 24005727 2014 GNE myopathy in India.

PMID 15136692 2004 Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant.

PMID 14707127 2004 Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.

PMID 25978849 2015 Activation of the Unfolded Protein Response in Sporadic Inclusion-Body Myositis but Not in Hereditary GNE Inclusion-Body Myopathy.

PMID 16503651 2006 Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy.

PMID 15670773 2005 No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation.

PMID 23278550 2013 Prevalence of GNE p.M712T and hereditary inclusion body myopathy (HIBM) in Sangesar population of Northern Iran.

PMID 20300792 2010 The spectrum of GNE mutations: allelic heterogeneity for a common phenotype.

PMID 15147877 2004 The homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy.

PMID 18555875 2008 [Distal myopathy due to mutations of GNE gene: clinical spectrum and diagnosis].

PMID 24695763 2014 Two recurrent mutations are associated with GNE myopathy in the North of Britain.

PMID 19917666 2010 Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria.

PMID 16372135 2006 Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles.

PMID 22507750 2012 Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations.

PMID 23127962 2013 Respiratory dysfunction in patients severely affected by GNE myopathy (distal myopathy with rimmed vacuoles).

PMID 20059379 2010 Novel GNE mutations in hereditary inclusion body myopathy patients of non-Middle Eastern descent.

PMID 22231866 2012 Muscle imaging findings in GNE myopathy.

PMID 24796702 2014 Mutation update for GNE gene variants associated with GNE myopathy.

PMID 24136589 2014 Non-specific accumulation of glycosphingolipids in GNE myopathy.

PMID 20346669 2010 Novel missense mutation p.A310P in the GNE gene in autosomal-recessive hereditary inclusion-body myopathy/distal myopathy with rimmed vacuoles in an Italian family.

PMID 26231298 2015 GNE myopathy in Roma patients homozygous for the p.I618T founder mutation.

PMID 21307865 2011 Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles.

PMID 15987957 2005 Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy.

rs28937594 in GNE;CLTA gene and Sialuria PMID 20300792 2010 The spectrum of GNE mutations: allelic heterogeneity for a common phenotype.

PMID 23278550 2013 Prevalence of GNE p.M712T and hereditary inclusion body myopathy (HIBM) in Sangesar population of Northern Iran.

PMID 15147877 2004 The homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy.

PMID 11528398 2001 The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.

PMID 15670773 2005 No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation.

PMID 12409274 2002 Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737).

PMID 21307865 2011 Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles.

PMID 26231298 2015 GNE myopathy in Roma patients homozygous for the p.I618T founder mutation.

PMID 22507750 2012 Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations.

PMID 15987957 2005 Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy.

PMID 24136589 2014 Non-specific accumulation of glycosphingolipids in GNE myopathy.

PMID 24695763 2014 Two recurrent mutations are associated with GNE myopathy in the North of Britain.

PMID 12473769 2002 GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM.

rs794727505 in GNE;CLTA gene and Thrombocytopenia PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.