Literature summary for 2.7.1.60 extracted from

Mori-Yoshimura, M.; Monma, K.; Suzuki, N.; Aoki, M.; Kumamoto, T.; Tanaka, K.; Tomimitsu, H.; Nakano, S.; Sonoo, M.; Shimizu, J.; Sugie, K.; Nakamura, H.; Oya, Y.; Hayashi, Y.K.; Malicdan, M.C.; Noguchi, S.; Murata, M.; Nishino, I.
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 (2012), J. Neurol. Sci., 318, 100-105.

Protein Variants

Protein Variants	Comment	Organism
A630T	homozygous mutant of the N-acetylmannose kinase domain, involved in GNE myopathy	Homo sapiens
M712T	homozygous mutant of the N-acetylmannose kinase domain, involved in GNE myopathy	Homo sapiens
additional information	homozygote and heterozygte mutants of the epimerase and the kinase domains of the enzyme, respectively, overview	Homo sapiens
V572L	homozygous mutant of the N-acetylmannose kinase domain, involved in GNE myopathy	Homo sapiens

Organism	UniProt	Comment	Textmining
Homo sapiens	Q9Y223	-	-

Synonyms	Comment	Organism
GNE	-	Homo sapiens

General Information	Comment	Organism
malfunction	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, screening study of mutant individuals, genotypes of the GNE myopathy patient population and phenotypes, overview	Homo sapiens

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Release 2023.1 (January 2023)