Literature summary for 2.7.1.60 extracted from

Ishihara, S.; Tomimitsu, H.; Fujigasaki, H.; Saito, F.; Mizusawa, H.
UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase in nuclei and rimmed vacuoles of muscle fibers in DMRV (distal myopathy with rimmed vacuoles) (2008), J. Med. Dent. Sci., 55, 181-187.

Search for more literature for 2.7.1.60

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
myonucleus	-	Homo sapiens	-	-
sarcoplasm	in distal-myopathy-with-rimmed-vacuoles muscle	Homo sapiens	16528	-
vacuole	-	Homo sapiens	5773	-

Molecular Weight [Da]

Molecular Weight [Da]	Molecular Weight Maximum [Da]	Comment	Organism
75000	-	x * 75000 Da, Western blot analysis	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q9Y223	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
muscle	in distal-myopathy-with-rimmed-vacuoles muscle	Homo sapiens	-

Subunits

Subunits	Comment	Organism
?	x * 75000 Da, Western blot analysis	Homo sapiens

Synonyms

Synonyms	Comment	Organism
N-acetylmannosamine kinase	bifunctional enzyme: UDP-N-acetylglucosamine 2-epimerase /N-acetylmannosamine kinase	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	all cases of hereditary inclusion body myopathy and distal myopathy with rimmed vacuoles are caused by mutations	Homo sapiens
metabolism	rate-limiting in the sialic acid biosynthetic pathway	Homo sapiens

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Release 2023.1 (January 2023)