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Literature summary for 2.4.2.7 extracted from
- Two families with compound heterozygosity for adenine phosphoribosyltransferase deficiency (2010), Pediatr. Nephrol., 25, 1173-1176.
Cloned(Commentary)
| Cloned (Comment) | Organism |
|---|---|
| genotyping, genetic screening for mutant genes APRT*Q0 and APRT*J in two families | Homo sapiens |
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| additional information | identification of three cases of APRT*Q0 /APRT*J compound heterozygote-type APRT deficiency, genotyping, overview | Homo sapiens |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
- |
- |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| APRT | - |
Homo sapiens |
General Information
| General Information | Comment | Organism |
|---|---|---|
| malfunction | a congenital deficiency in the enzyme adenine phosphoribosyltransferase causes the disorder with 2,8-dihydroxyadenine crystalluria. In most cases, APRT deficiency is caused by autosomal recessive inheritance of a homozygote of the mutant gene APRT*Q0 or APRT*J, but there are also some cases in which the disorder is caused by the compound heterozygote APRT*Q0 and APRT*J | Homo sapiens |
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Release 2023.1 (January 2023)
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