| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| inositol-polyphosphate 5-phosphatase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.3.56 |
| |
| Gene |
ITPA |
| Chromosomal Location |
20p |
| Allelic Variant 1 |
147520.0001; INOSINE TRIPHOSPHATASE DEFICIENCY |
| Identified Mutation |
PRO32THR; In patients with ITPase deficiency, Sumi et al. (2002) found a 94C-A transversion in exon 2 of the ITPA gene that resulted in a pro32-to-thr (P32T) substitution. The proline residue is conserved in mouse and Drosophila. All 6 individuals who were homozygous for the 94C-A mutation had completely deficient erythrocyte ITPase activity, accompanied by the abnormal accumulation of ITP and red blood cells. In addition, ITPase activity was decreased in all 13 heterozygotes, providing further evidence of the association between the 94C-A mutation and an ITPase-deficient phenotype. |
| |
| Gene |
ITPA |
| Chromosomal Location |
20p |
| Allelic Variant 2 |
147520.0001; INOSINE TRIPHOSPHATASE DEFICIENCY |
| Identified Mutation |
PRO32THR; In patients with ITPase deficiency, Sumi et al. (2002) found a 94C-A transversion in exon 2 of the ITPA gene that resulted in a pro32-to-thr (P32T) substitution. The proline residue is conserved in mouse and Drosophila. All 6 individuals who were homozygous for the 94C-A mutation had completely deficient erythrocyte ITPase activity, accompanied by the abnormal accumulation of ITP and red blood cells. In addition, ITPase activity was decreased in all 13 heterozygotes, providing further evidence of the association between the 94C-A mutation and an ITPase-deficient phenotype. |