Cloned (Comment) | Organism |
---|---|
genotyping, genetic screening for mutant genes APRT*Q0 and APRT*J in two families | Homo sapiens |
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 | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Synonyms | Comment | Organism |
---|---|---|
APRT | - |
Homo sapiens |
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 |