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Literature summary for 1.13.11.5 extracted from

  • Sen Gupta, P.S.; Islam, R.N.U.; Banerjee, S.; Nayek, A.; Rana, M.K.; Bandyopadhyay, A.K.
    Screening and molecular characterization of lethal mutations of human homogentisate 1,2 dioxigenase (2021), J. Biomol. Struct. Dyn., 39, 1661-1671 .
    View publication on PubMed
Search for more literature for 1.13.11.5

Protein Variants

Protein Variants Comment Organism
A122D loss of structural and molecular dynamic properties of the enzyme, the mutation is potentially related with the severity of alkaptonuria Homo sapiens
A122D the mutation is potentially related with the severity of alkaptonuria Homo sapiens
V300G loss of structural and molecular dynamic properties of the enzyme, the mutation is potentially related with the severity of alkaptonuria Homo sapiens
V300G the mutation is potentially related with the severity of alkaptonuria Homo sapiens
W60G loss of structural and molecular dynamic properties of the enzyme, the mutation is potentially related with the severity of alkaptonuria Homo sapiens
W60G the mutation is potentially related with the severity of alkaptonuria Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens Q93099
-
-

Synonyms

Synonyms Comment Organism
HgD
-
 Homo sapiens
homogentisate 1,2 dioxigenase
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction alkaptonuria is an autosomal recessive disorder, which is caused by a site-specific mutation(s) and thus, impairs the function of homogentisate-1, 2-dioxygenase Homo sapiens
malfunction alkaptonuria is an autosomal recessive disorder, which is caused by a site-specific mutations and thus, impairs the function of homogentisate-1,2-dioxygenase Homo sapiens
physiological function essential enzyme for the catabolism of phenylalanine and tyrosine Homo sapiens