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Literature summary for 1.7.1.7 extracted from

  • Sommerville, E.W.; Dalla Rosa, I.; Rosenberg, M.M.; Bruni, F.; Thompson, K.; Rocha, M.; Blakely, E.L.; He, L.; Falkous, G.; Schaefer, A.M.; Yu-Wai-Man, P.; Chinnery, P.F.; Hedstrom, L.; Spinazzola, A.; Taylor, R.W.; Gorman, G.S.
    Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance (2020), Clin. Genet., 97, 276-286 .
    View publication on PubMedView publication on EuropePMC

Protein Variants

Protein Variants Comment Organism
G183R the variant causes aberrant splicing, decreased enzyme protein levels in skeletal muscle of patient with autosomal dominant progressive external ophthalmoplegia, proliferating and quiescent cells, and is associated with subtle changes in nucleotide homeostasis protein levels and evidence of disturbed mitochondrial DNA maintenance in skeletal muscle Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
cytosol
-
Homo sapiens 5829
-

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
GMP + NADPH + H+ Homo sapiens
-
IMP + NH3 + NADP+
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens P36959
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
GMP + NADPH + H+
-
Homo sapiens IMP + NH3 + NADP+
-
?

Synonyms

Synonyms Comment Organism
GMPR
-
Homo sapiens
guanosine monophosphate reductase
-
Homo sapiens

Cofactor

Cofactor Comment Organism Structure
NADPH
-
Homo sapiens

General Information

General Information Comment Organism
malfunction an enzyme mutation causes aberrant splicing, decreased enzyme protein levels in skeletal muscle of patient with autosomal dominant progressive external ophthalmoplegia, proliferating and quiescent cells, and is associated with subtle changes in nucleotide homeostasis protein levels and evidence of disturbed mitochondrial DNA maintenance in skeletal muscle Homo sapiens