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Literature summary for 1.13.11.5 extracted from

  • Al-sbou, M.
    Novel mutations in the homogentisate 1,2 dioxygenase gene identified in Jordanian patients with alkaptonuria (2012), Rheumatol. Int., 32, 1741-1746.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
DNA and ammino acid sequence determinaation and analysis, located on chromosome 3(q23-3q21), genotyping and identification of narurally occuring mutations involved in alkaptonuria, overview Homo sapiens

Protein Variants

Protein Variants Comment Organism
C1273A naturally occuring mutation, the mutation is involved in alkaptonuria Homo sapiens
additional information the 551-552insG mutation is involved in alkaptonuria Homo sapiens
T1046G naturally occuring mutation, the mutation is involved in alkaptonuria Homo sapiens
T533G naturally occuring mutation, the mutation is involved in alkaptonuria Homo sapiens
T847C naturally occuring mutation, the mutation is involved in alkaptonuria Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens Q93099
-
-

Synonyms

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

General Information

General Information Comment Organism
malfunction enzyme mutations in the homogentisate 1,2 dioxygenase gene are responsible for alkaptonuria in patients among Jordanian population, genotyping, overview Homo sapiens