NAGA | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | NAGA , D22S674, GALB, alpha-N-acetylgalactosaminidase | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 104170 MGI: 1261422 HomoloGene: 221 GeneCards: NAGA | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Alpha-N-acetylgalactosaminidase is an enzyme that in humans is encoded by the NAGA gene. [5]
NAGA encodes the lysosomal enzyme alpha-N-acetylgalactosaminidase, which cleaves alpha-N-acetylgalactosaminyl moieties from glycoconjugates. Mutations in NAGA have been identified as the cause of Schindler disease types I and II (type II also known as Kanzaki disease). [5]
α-Galactosidase is a glycoside hydrolase enzyme that catalyses the following reaction:
Lecithin–cholesterol acyltransferase is an enzyme, in many animals including humans, that converts free cholesterol into cholesteryl ester, which is then sequestered into the core of a lipoprotein particle, eventually making the newly synthesized HDL spherical and forcing the reaction to become unidirectional since the particles are removed from the surface. The enzyme is bound to high-density lipoproteins (HDLs) (alpha-LCAT) and LDLs (beta-LCAT) in the blood plasma. LCAT deficiency can cause impaired vision due to cholesterol corneal opacities, anemia, and kidney damage. It belongs to the family of phospholipid:diacylglycerol acyltransferases.
Tissue alpha-L-fucosidase is an enzyme that in humans is encoded by the FUCA1 gene.
N-acetylgalactosamine-6-sulfatase is an enzyme that, in humans, is encoded by the GALNS gene.
Cathepsin A is an enzyme that is classified both as a cathepsin and a carboxypeptidase. In humans, it is encoded by the CTSA gene.
Prosaposin, also known as PSAP, is a protein which in humans is encoded by the PSAP gene.
The alpha-1D adrenergic receptor, also known as ADRA1D, is an alpha-1 adrenergic receptor, and also denotes the human gene encoding it.
Carcinoembryonic antigen-related cell adhesion molecule 6 (CEACAM6) also known as CD66c, is a member of the carcinoembryonic antigen (CEA) gene family..
Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial is an enzyme that in humans is encoded by the DBT gene.
40S ribosomal protein S13 is a protein that in humans is encoded by the RPS13 gene.
Alpha-(1,3)-fucosyltransferase is an enzyme that in humans is encoded by the FUT6 gene.
ATP-dependent DNA helicase Q1 is an enzyme that in humans is encoded by the RECQL gene.
ATP synthase subunit b, mitochondrial is an enzyme that in humans is encoded by the ATP5PB gene.
Pregnancy-specific beta-1-glycoprotein 5 is a protein that in humans is encoded by the PSG5 gene.
Alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase is an enzyme that in humans is encoded by the MGAT1 gene.
Pregnancy-specific beta-1-glycoprotein 4 is a protein that in humans is encoded by the PSG4 gene.
Pregnancy-specific beta-1-glycoprotein 6 is a protein that in humans is encoded by the PSG6 gene.
Sialic acid-binding Ig-like lectin 10 is a protein that in humans is encoded by the SIGLEC10 gene. Siglec-G is often referred to as the murine paralog of human Siglec-10
Schindler disease, also known as Kanzaki disease and alpha-N-acetylgalactosaminidase deficiency, is a rare disease found in humans. This lysosomal storage disorder is caused by a deficiency in the enzyme alpha-NAGA (alpha-N-acetylgalactosaminidase), attributable to mutations in the NAGA gene on chromosome 22, which leads to excessive lysosomal accumulation of glycoproteins. A deficiency of the alpha-NAGA enzyme leads to an accumulation of glycosphingolipids throughout the body. This accumulation of sugars gives rise to the clinical features associated with this disorder. Schindler disease is an autosomal recessive disorder, meaning that one must inherit an abnormal allele from both parents in order to have the disease.
In molecular biology, glycoside hydrolase family 27 is a family of glycoside hydrolases.