Literature summary for 2.6.1.13 extracted from

Ohkubo, Y.; Ueta, A.; Ito, T.; Sumi, S.; Yamada, M.; Ozawa, K.; Togari, H.
Vitamin B6-responsive ornithine aminotransferase deficiency with a novel mutation G237D (2005), Tohoku J. Exp. Med., 205, 335-342.

Search for more literature for 2.6.1.13

Application

Application	Comment	Organism
medicine	patient with gyrate atrophy of the choroid and retina, mutation G237D, responds to vitamin B6 medication	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
G237D	patient with gyrate atrophy of the choroid and retina, mutation of both alleles, no enzymic activity in white blood cells. Son of patient is heterozygous for the mutation and has 45% of normal values for enzyme activity	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	patient with gyrate atrophy of the choroid and retina	-

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Release 2023.1 (January 2023)