Literature summary for 2.7.8.17 extracted from

Wang, P.; Mazrier, H.; Rae, J.C.; Raj, K.; Giger, U.
A GNPTAB nonsense variant is associated with feline mucolipidosis II (I-cell disease) (2018), BMC Vet. Res., 14, 416 .

Search for more literature for 2.7.8.17

Application

Application	Comment	Organism
medicine	mucolipidosis II in cats is caused by a deficiency of N-acetylglucosamine-1-phosphotransferase. All affected cats tested are homozygous for a single base substitution (c.2644C > T) in exon 13 of GNPTAB. The variant results in a premature stop codon (p.Gln882*) which predicts severe truncation and complete dysfunction of the GNPTAB enzyme. About 140 GNPTAB variants have been described in human ML II patients, with 41.3% nonsense/missense mutations, nine occurring in the same gene region as in this feline model	Felis catus

Protein Variants

Protein Variants	Comment	Organism
additional information	mucolipidosis II in cats is caused by a deficiency of N-acetylglucosamine-1-phosphotransferase. All affected cats tested are homozygous for a single base substitution (c.2644C > T) in exon 13 of GNPTAB. The variant results in a premature stop codon (p.Gln882*) which predicts severe truncation and complete dysfunction of the GNPTAB enzyme	Felis catus

Organism

Organism	UniProt	Comment	Textmining
Felis catus	M3W9A8	-	-

Synonyms

Synonyms	Comment	Organism
GNPTAB	-	Felis catus

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Release 2023.1 (January 2023)