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

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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.
Physical and functional interactome atlas of human receptor tyrosine kinases. [EMBO Rep. 2022]
Physical and functional interactome atlas of human receptor tyrosine kinases.
Salokas K, Liu X, Öhman T, Chowdhury I, Gawriyski L, Keskitalo S, Varjosalo M. EMBO Rep. 2022 Jun 7; 23(6):e54041. Epub 2022 Apr 5.

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 4 (NP_001350158.1).

Protein
Protein sequence from Nucleotide coding region
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Nucleotide