HGSNAT Antibody (PACO09719)
- SKU:
- PACO09719
- Product Type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Host Species:
- Rabbit
- Isotype:
- IgG
- Applications:
- ELISA
- Applications:
- IHC
- Antibody Type:
- Polyclonal Antibody
- Conjugation:
- Unconjugated
Description
| Antibody Name: | HGSNAT Antibody (PACO09719) |
| Antibody SKU: | PACO09719 |
| Size: | 50ul |
| Host Species: | Rabbit |
| Tested Applications: | ELISA, IHC |
| Recommended Dilutions: | |
| Species Reactivity: | Human, Mouse |
| Immunogen: | Human HGSNAT |
| Form: | Liquid |
| Storage Buffer: | PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles. |
| Purification Method: | Antigen Affinity Purified |
| Clonality: | Polyclonal |
| Isotype: | IgG |
| Conjugate: | Non-conjugated |
| Synonyms: | heparan-alpha-glucosaminide N-acetyltransferase;HGSNAT;DKFZp686G24175;FLJ22242;FLJ32731;HGNAT;MPS3C;TMEM76 ; |
| UniProt Protein Function: | HGSNAT: Lysosomal acetyltransferase that acetylates the non- reducing terminal alpha-glucosamine residue of intralysosomal heparin or heparan sulfate, converting it into a substrate for luminal alpha-N-acetyl glucosaminidase. Defects in HGSNAT are the cause of mucopolysaccharidosis type 3C (MPS3C); also known as Sanfilippo C syndrome. MPS3C is a form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. 2 isoforms of the human protein are produced by alternative initiation.Protein type: Membrane protein, multi-pass; Membrane protein, integral; Acetyltransferase; EC 2.3.1.78; Glycan Metabolism - glycosaminoglycan degradationChromosomal Location of Human Ortholog: 8p11.1Cellular Component: lysosomal membrane; integral to membraneMolecular Function: heparan-alpha-glucosaminide N-acetyltransferase activity; transferase activity, transferring acyl groupsBiological Process: glycosaminoglycan catabolic process; lysosomal transport; glycosaminoglycan metabolic process; carbohydrate metabolic process; pathogenesis; protein oligomerizationDisease: Mucopolysaccharidosis, Type Iiic |
| UniProt Protein Details: | |
| NCBI Summary: | This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. [provided by RefSeq, Jan 2009] |
| UniProt Code: | Q68CP4 |
| NCBI GenInfo Identifier: | 150378452 |
| NCBI Gene ID: | 138050 |
| NCBI Accession: | NP_689632.2 |
| UniProt Secondary Accession: | Q68CP4,B4E2V0 |
| UniProt Related Accession: | Q68CP4 |
| Molecular Weight: | 73,293 Da |
| NCBI Full Name: | heparan-alpha-glucosaminide N-acetyltransferase |
| NCBI Synonym Full Names: | heparan-alpha-glucosaminide N-acetyltransferase |
| NCBI Official Symbol: | HGSNAT |
| NCBI Official Synonym Symbols: | HGNAT; MPS3C; TMEM76 |
| NCBI Protein Information: | heparan-alpha-glucosaminide N-acetyltransferase; transmembrane protein 76 |
| UniProt Protein Name: | Heparan-alpha-glucosaminide N-acetyltransferase |
| UniProt Synonym Protein Names: | Transmembrane protein 76 |
| Protein Family: | Heparan-alpha-glucosaminide N-acetyltransferase |
| UniProt Gene Name: | HGSNAT |
| UniProt Entry Name: | HGNAT_HUMAN |
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