Gene: GDAP1

Alternate names for this Gene: CMT4|CMT4A|CMTRIA

Gene Summary: This gene encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different isoforms and a noncoding variant have been identified for this gene.

Gene is located in Chromosome: 8

Location in Chromosome : 8q21.11

Description of this Gene: ganglioside induced differentiation associated protein 1

Type of Gene: protein-coding

rs104894078 in GDAP1 gene and CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K PMID 28244113 2017 Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants.

PMID 22206013 2011 The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.

PMID 26525999 2016 GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course.

PMID 15772096 2005 GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria.

PMID 20685671 2010 The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K.

rs104894075 in GDAP1 gene and CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) PMID 11743579 2002 Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21.

PMID 21840889 2011 Genetic spectrum of hereditary neuropathies with onset in the first year of life.

PMID 12601710 2003 CMT4A: identification of a Hispanic GDAP1 founder mutation.

PMID 16172208 2005 Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease.

PMID 15772096 2005 GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria.

PMID 11743580 2002 The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease.

PMID 20849849 2011 Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations.

PMID 14561495 2003 Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease.

PMID 18021315 2008 Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease.

PMID 22971097 2012 A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family.

PMID 21890626 2011 Charcot-Marie-Tooth-related gene GDAP1 complements cell cycle delay at G2/M phase in Saccharomyces cerevisiae fis1 gene-defective cells.

PMID 21753178 2011 Dominant GDAP1 mutations cause predominantly mild CMT phenotypes.

PMID 15805163 2005 Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect.

PMID 21199105 2010 Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease.

PMID 19782751 2009 GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance.

PMID 28220846 2017 CMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca2+ entry-stimulated respiration.

PMID 23628762 2013 Charcot-Marie-Tooth disease-associated mutants of GDAP1 dissociate its roles in peroxisomal and mitochondrial fission.

PMID 18504680 2008 Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.

PMID 19500985 2009 Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A.

PMID 20685671 2010 The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K.

PMID 26392352 2015 Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.

PMID 22206013 2011 The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.

PMID 28495047 2017 Similar clinical, pathological, and genetic features in Chinese patients with autosomal recessive and dominant Charcot-Marie-Tooth disease type 2K.

PMID 21692914 2011 Two recessive intermediate Charcot-Marie-Tooth patients with GDAP1 mutations.

PMID 15192818 2004 [Mutation analysis of ganglioside-induced differentiation associated protein-1 gene in Chinese Charcot-Marie-Tooth disease].

PMID 29372391 2018 Genotype-phenotype correlation and frequency of distribution in a cohort of Chinese Charcot-Marie-Tooth patients associated with GDAP1 mutations.

PMID 23466821 2013 Molecular analysis of the genes causing recessive demyelinating Charcot-Marie-Tooth disease in Japan.

PMID 17433678 2007 GDAP1 mutations in Czech families with early-onset CMT.

PMID 15377708 2004 A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect.

PMID 21965300 2012 Charcot-Marie-Tooth disease CMT4A: GDAP1 increases cellular glutathione and the mitochondrial membrane potential.

PMID 25429913 2014 Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.

PMID 23456260 2013 Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland.

PMID 26525999 2016 GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course.

PMID 23963299 2014 Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1.

PMID 18421898 2007 Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene.

PMID 28751717 2017 Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.

PMID 21212451 2011 The homozygous ganglioside-induced differentiation-associated protein 1 mutation c.373C > T causes a very early-onset neuropathy: case report and literature review.

PMID 12566285 2003 Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy.

rs756461496 in GDAP1 gene and Charcot-Marie-Tooth Disease PMID 25614874 2014 The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.

rs28937906 in GDAP1 gene and Charcot-Marie-Tooth Disease, Recessive Intermediate A PMID 12566285 2003 Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy.

PMID 12499475 2002 Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy.

PMID 15772096 2005 GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria.

PMID 16172208 2005 Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease.

rs28493987 in GDAP1 gene and Chronic Obstructive Airway Disease PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.

rs28493987 in GDAP1 gene and Forced expiratory volume function PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.

rs10504576 in GDAP1 gene and Polysomnography PMID 17903300 2007 Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project.

rs16938910 in GDAP1 gene and Rheumatoid Arthritis PMID 22491018 2013 Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.

rs4471028 in GDAP1 gene and Waist Circumference PMID 17903300 2007 The top SNPs to be associated with mean BMI and mean WC by GEE were rs110683 (p-value 1.22*10(-7)) and rs4471028 (p-values 1.96*10(-7)).