Literature summary for 2.7.7.12 extracted from

Papachristoforou, R.; Petrou, P.P.; Sawyer, H.; Williams, M.; Drousiotou, A.
A novel large deletion encompassing the whole of the galactose-1-phosphate uridyltransferase (GALT) gene and extending into the adjacent interleukin 11 receptor alpha (IL11RA) gene causes classic galactosemia associated with additional phenotypic abnormalities (2014), JIMD Rep., 12, 91-98.

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Application

Application	Comment	Organism
medicine	characterization of a large deletion spanning 8489 bp in the GALT gene accounting for the majority of disease alleles in Cypriot patients with classic galactosemia. The deletion eliminates all GALT exons as well as the non-translated sequences of the adjacent interleukin 11 receptor IL11RA gene. It is flanked by a 6 bp block of homologous sequence on either side. Patients homozygous for the deletion show a lack of IL11RA transcripts	Homo sapiens

Cloned(Commentary)

Cloned (Comment)	Organism
-	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
additional information	characterization of a large deletion spanning 8489 bp in the GALT gene accounting for the majority of disease alleles in Cypriot patients with classic galactosemia	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P07902	-	-

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Release 2023.1 (January 2023)