Literature summary for 3.1.6.12 extracted from

Lin, W.D.; Ke, Y.Y.; Chou, I.C.; Wang, C.H.; Tsai, F.J.
Deletion of exon 4 in the N-acetylgalactosamine-4-sulfatase gene in a Taiwanese patient with mucopolysaccharidosis type VI (2015), Tohoku J. Exp. Med., 235, 267-273 .

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Protein Variants

Protein Variants	Comment	Organism
additional information	a homozygous deletion of exon 4 is observed in a 5-year-old girl who presented with an exaggerated, convex curvature of the back at the age of one year. The mutation leads to abnormal excretion of dermatan sulfate in the urine and extremely low leukocyte ARSB activity. The deletion leads to a truncated protein that lacks most of the catalytic domain. The patient received recombinant human ARSB as enzyme replacement therapy at an early stage (2 years), and responded positively in terms of skeletal development and other developmental milestones	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P15848	-	-

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Release 2023.1 (January 2023)