homogentisate 1,2-dioxygenase isoform X2 [Homo sapiens]

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Homogentisate 1,2-dioxygenase (HGD) gene variants in young Egyptian patients with alkaptonuria. [Sci Rep. 2023]
Homogentisate 1,2-dioxygenase (HGD) gene variants in young Egyptian patients with alkaptonuria.
Abdelkhalek ZS, Mahmoud IG, Omair H, Abdulhay M, Elmonem MA. Sci Rep. 2023 Sep 1; 13(1):14374. Epub 2023 Sep 1.
Structure-Function Relationship of Homogentisate 1,2-dioxygenase: Understanding the Genotype-Phenotype Correlations in the Rare Genetic Disease Alkaptonuria. [Curr Protein Pept Sci. 2023]
Structure-Function Relationship of Homogentisate 1,2-dioxygenase: Understanding the Genotype-Phenotype Correlations in the Rare Genetic Disease Alkaptonuria.
Bernini A, Spiga O, Santucci A. Curr Protein Pept Sci. 2023; 24(5):380-392.
A novel mutation in the homogentisate 1,2 dioxygenase gene identified in Chinese Hani pediatric patients with Alkaptonuria. [Clin Chim Acta. 2022]
A novel mutation in the homogentisate 1,2 dioxygenase gene identified in Chinese Hani pediatric patients with Alkaptonuria.
Tao L, Deng C, Ma M, Zhang Y, Duan J, Li Y, Fang L, Zhou Y, He X, Wang Y, et al. Clin Chim Acta. 2022 Jul 1; 532:164-171. Epub 2022 May 10.

RefSeq genomic sequence
See the genomic reference sequence for the HGD gene (NG_011957.1).
RefSeq mRNA
See reference mRNA sequence for the HGD gene (XM_005247413.3).
RefSeq protein isoforms
See 15 reference sequence protein isoforms for the HGD gene.

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Protein