KEGG VARIANT: 5428v1

VARIANT: 5428v1

Entry

5428v1                      Variant

Name

POLG mutation

Type

Loss of function

Gene

POLG DNA polymerase gamma, catalytic subunit [KO:K02332]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutations
OmimVar: 174763

Network

nt06504 Base excision repair

Disease

Mitochondrial DNA depletion syndrome

Progressive external ophthalmoplegia

Mitochondrial neurogastrointestinal encephalomyopathy

Reference

Authors

Lamantea E, Tiranti V, Bordoni A, Toscano A, Bono F, Servidei S, Papadimitriou A, Spelbrink H, Silvestri L, Casari G, Comi GP, Zeviani M

Title

Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

Journal

Ann Neurol 52:211-9 (2002)
DOI:10.1002/ana.10278

Reference

Authors

Chan SS, Copeland WC

Title

DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations.

Journal

Biochim Biophys Acta 1787:312-9 (2009)
DOI:10.1016/j.bbabio.2008.10.007

LinkDB

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