Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), - Nucleotide

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Identification and characterization of novel genetic variants in the first Chinese family of mucopolysaccharidosis IIIC (Sanfilippo C syndrome). [J Cell Mol Med. 2024]
Identification and characterization of novel genetic variants in the first Chinese family of mucopolysaccharidosis IIIC (Sanfilippo C syndrome).
Zhao H, Wang L, Zhang M, Wang H, Zhang S, Wu J, Tang Y. J Cell Mol Med. 2024 Apr; 28(8):e18307.
Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathy. [Ophthalmic Genet. 2024]
Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathy.
da Palma MM, Marra M, Igelman AD, Ku CA, Burr A, Andersen K, Everett LA, Porto FBO, Sallum JMF, Yang P, et al. Ophthalmic Genet. 2024 Apr; 45(2):167-174. Epub 2023 Aug 17.
Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene. [Metab Brain Dis. 2023]
Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene.
Liang Y, Gao X, Lu D, Zhang H, Zhang. Metab Brain Dis. 2023 Aug; 38(6):2013-2023. Epub 2023 Apr 4.

RefSeq alternative splicing
See 12 reference mRNA sequence splice variants for the HGSNAT gene.
RefSeq protein product
See the reference protein sequence for heparan-alpha-glucosaminide N-acetyltransferase isoform 2 precursor (NP_001350156.1).

Protein
Protein sequence from Nucleotide coding region
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Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), transcrip...
Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), transcript variant 2, mRNA
gi|1676318026|ref|NM_001363227.2|

Nucleotide

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Nucleotide