Literature summary for 5.1.3.1 extracted from

Dallapiccola, B.; Novelli, G.; Giannotti, A.
Deletion 2q31.3-->2q33.3: gene dosage effect of ribulose 5-phosphate 3-epimerase (1988), Hum. Genet., 79, 92.

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Cloned(Commentary)

Cloned (Comment)	Organism
enzyme with half normal activity in a malformed and severely mentally retarded girl with a de novo interstitial deletion 46,XX.del(2)(q32.lq34). It is suggested that the gene for ribulose-phosphate 3-epimerase is located on the segment 2q32.1 to q34	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	malformed and severely mentally retarded girl with a de novo interstitial deletion 46,XX.del(2)(q32.lq34)	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
D-Ribulose 5-phosphate	-	Homo sapiens	D-Xylulose 5-phosphate	-	?

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Release 2023.1 (January 2023)