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Symbol
Name
ID

Gnptab
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
MGI:3643902

Phenotype annotations related to homeostasis/metabolism

Darker colors indicate more annotations

Human Phenotypes	Deficiency of N-acetylglucosamine-1-phosphotransferase	Palpebral edema	Increased serum beta-hexosaminidase	Increased iduronate sulfatase level	Mucopolysacchariduria
Disease(s) Associated with GNPTAB	Deficiency of N-acetylglucosamine-1-phosphotransferase	Palpebral edema	Increased serum beta-hexosaminidase	Increased iduronate sulfatase level	Mucopolysacchariduria
mucolipidosis II alpha/beta
mucolipidosis III alpha/beta

Mouse Phenotypes		abnormal circulating enzyme level	increased circulating type I collagen C-terminal telopeptide level	abnormal enzyme/coenzyme activity
Availability	Mouse Genotype	abnormal circulating enzyme level		abnormal enzyme/coenzyme activity
	Gnptab^{Gt(OST97730)Lex}/Gnptab^{Gt(OST97730)Lex}
	Gnptab^nym/Gnptab^nym
	Gnptab^tm1Kkol/Gnptab^tm1Kkol

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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