Literature summary for 1.13.11.5 extracted from

Bernini, A.; Galderisi, S.; Spiga, O.; Amarabom, C.O.; Santucci, A.
Transient pockets as mediators of gas molecules routes inside proteins The case study of dioxygen pathway in homogentisate 1,2-dioxygenase and its implication in Alkaptonuria development (2020), Comput. Biol. Chem., 88, 107356 .

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Protein Variants

Protein Variants	Comment	Organism
E401Q	the missense variant E401Q is responsible for development of Alkaptonuria	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q93099	-	-

Synonyms

Synonyms	Comment	Organism
HgD	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	Alkaptonuria (AKU) is an ultra-rare disease caused by mutations in homogentisate 1,2-dioxygenase (HGD) enzyme, characterized by the loss of enzymatic activity and the accumulation of its substrate, homogentisic acid (HGA) in different tissues, leading to ochronosis and organ degeneration	Homo sapiens

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Release 2023.1 (January 2023)