Results for "aica-ribosiduria due to atic deficiency": 4 genes

Name

ATIC Gene

5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase

This gene encodes a bifunctional protein that catalyzes the last two steps of the de novo purine biosynthetic pathway. The N-terminal domain has phosphoribosylaminoimidazolecarboxamide formyltransferase activity, and the C-terminal domain has IMP cyclohydrolase activity. A mutation in this gene results in AICA-ribosiduria. [provided by RefSeq, Sep 2009]

OPHLC Gene

Omphalocele due to duplication of 1p31.3

PSHK2 Gene

Pseudohyperkalemia, familial, 2, due to red cell leak

SM2 Gene

Hepatic fibrosis susceptibility due to Schistosoma mansoni infection