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Genetics Home Reference: your guide to understanding genetic conditions
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GDAP1

Reviewed March 2013

What is the official name of the GDAP1 gene?

The official name of this gene is “ganglioside induced differentiation associated protein 1.”

GDAP1 is the gene's official symbol. The GDAP1 gene is also known by other names, listed below.

What is the normal function of the GDAP1 gene?

The GDAP1 gene provides instructions for making a protein called ganglioside-induced differentiation-associated protein 1. This protein is found in the outer membrane of mitochondria, the energy-producing centers within cells. Mitochondria are dynamic structures that change shape through processes called fission (splitting into smaller pieces) and fusion (combining pieces). Changes in shape are thought to be critical for mitochondria to work properly. Although the function of the GDAP1 protein is not well understood, it appears to play a role in controlling the shape of mitochondria by promoting fission.

How are changes in the GDAP1 gene related to health conditions?

Charcot-Marie-Tooth disease - caused by mutations in the GDAP1 gene

Researchers have identified more than 50 mutations in the GDAP1 gene that can cause Charcot-Marie-Tooth disease, a disorder that results in muscle weakness, wasting (atrophy) of muscles, and loss of sensation in the feet, legs, and hands. Some of these mutations create a premature stop signal in the instructions for making the GDAP1 protein. As a result, cells produce an abnormally short protein that is unlikely to be inserted correctly into the outer membrane of mitochondria. Other mutations change single building blocks (amino acids) used to make the GDAP1 protein, which may alter its shape or function.

It is unclear how GDAP1 gene mutations lead to the characteristic features of Charcot-Marie-Tooth disease. These mutations probably impair the mitochondria's ability to change shape, but how this impairment affects the peripheral nerves is not well understood.

Where is the GDAP1 gene located?

Cytogenetic Location: 8q21.11

Molecular Location on chromosome 8: base pairs 74,350,382 to 74,367,109

The GDAP1 gene is located on the long (q) arm of chromosome 8 at position 21.11.

The GDAP1 gene is located on the long (q) arm of chromosome 8 at position 21.11.

More precisely, the GDAP1 gene is located from base pair 74,350,382 to base pair 74,367,109 on chromosome 8.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about GDAP1?

You and your healthcare professional may find the following resources about GDAP1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the GDAP1 gene or gene products?

  • CMT2G
  • CMT2K
  • CMT4
  • CMT4A
  • ganglioside-induced differentiation-associated protein 1
  • GDAP1_HUMAN

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding GDAP1?

acids ; atrophy ; differentiation ; gene ; mitochondria ; peripheral ; peripheral nerves ; protein ; wasting

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Ammar N, Nelis E, Merlini L, Barisić N, Amouri R, Ceuterick C, Martin JJ, Timmerman V, Hentati F, De Jonghe P. Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease. Neuromuscul Disord. 2003 Nov;13(9):720-8. (http://www.ncbi.nlm.nih.gov/pubmed/14561495?dopt=Abstract)
  • Boerkoel CF, Takashima H, Nakagawa M, Izumo S, Armstrong D, Butler I, Mancias P, Papasozomenos SC, Stern LZ, Lupski JR. CMT4A: identification of a Hispanic GDAP1 founder mutation. Ann Neurol. 2003 Mar;53(3):400-5. (http://www.ncbi.nlm.nih.gov/pubmed/12601710?dopt=Abstract)
  • Cassereau J, Chevrollier A, Gueguen N, Desquiret V, Verny C, Nicolas G, Dubas F, Amati-Bonneau P, Reynier P, Bonneau D, Procaccio V. Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations. Exp Neurol. 2011 Jan;227(1):31-41. doi: 10.1016/j.expneurol.2010.09.006. Epub 2010 Sep 21. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20849849?dopt=Abstract)
  • Chung KW, Kim SM, Sunwoo IN, Cho SY, Hwang SJ, Kim J, Kang SH, Park KD, Choi KG, Choi IS, Choi BO. A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease. J Hum Genet. 2008;53(4):360-4. doi: 10.1007/s10038-008-0249-3. Epub 2008 Jan 31. (http://www.ncbi.nlm.nih.gov/pubmed/18231710?dopt=Abstract)
  • Claramunt R, Pedrola L, Sevilla T, López de Munain A, Berciano J, Cuesta A, Sánchez-Navarro B, Millán JM, Saifi GM, Lupski JR, Vílchez JJ, Espinós C, Palau F. Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. J Med Genet. 2005 Apr;42(4):358-65. (http://www.ncbi.nlm.nih.gov/pubmed/15805163?dopt=Abstract)
  • Cuesta A, Pedrola L, Sevilla T, García-Planells J, Chumillas MJ, Mayordomo F, LeGuern E, Marín I, Vílchez JJ, Palau F. The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. Nat Genet. 2002 Jan;30(1):22-5. Epub 2001 Dec 17. (http://www.ncbi.nlm.nih.gov/pubmed/11743580?dopt=Abstract)
  • Gene Review: Charcot-Marie-Tooth Neuropathy Type 2 (http://www.ncbi.nlm.nih.gov/books/NBK1285)
  • Gene Review: Charcot-Marie-Tooth Neuropathy Type 4A (http://www.ncbi.nlm.nih.gov/books/NBK1539)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/54332)
  • Nelis E, Erdem S, Van Den Bergh PY, Belpaire-Dethiou MC, Ceuterick C, Van Gerwen V, Cuesta A, Pedrola L, Palau F, Gabreëls-Festen AA, Verellen C, Tan E, Demirci M, Van Broeckhoven C, De Jonghe P, Topaloglu H, Timmerman V. Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy. Neurology. 2002 Dec 24;59(12):1865-72. (http://www.ncbi.nlm.nih.gov/pubmed/12499475?dopt=Abstract)
  • Niemann A, Berger P, Suter U. Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease. Neuromolecular Med. 2006;8(1-2):217-42. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16775378?dopt=Abstract)
  • Niemann A, Ruegg M, La Padula V, Schenone A, Suter U. Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease. J Cell Biol. 2005 Sep 26;170(7):1067-78. Epub 2005 Sep 19. (http://www.ncbi.nlm.nih.gov/pubmed/16172208?dopt=Abstract)
  • Pedrola L, Espert A, Wu X, Claramunt R, Shy ME, Palau F. GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria. Hum Mol Genet. 2005 Apr 15;14(8):1087-94. Epub 2005 Mar 16. (http://www.ncbi.nlm.nih.gov/pubmed/15772096?dopt=Abstract)
  • Young P, Suter U. The causes of Charcot-Marie-Tooth disease. Cell Mol Life Sci. 2003 Dec;60(12):2547-60. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14685682?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: March 2013
Published: December 22, 2014