| Passage Frozen |
7 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| biotin--[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 6.3.4.10; <1% activity. |
| |
| Gene |
HLCS |
| Chromosomal Location |
21q22.1 |
| Allelic Variant 1 |
253270.0007; HOLOCARBOXYLASE SYNTHETASE DEFICIENCY |
| Identified Mutation |
IVS10+5G>A; In a large survey of HLCS mutations in patients with biotin-responsive MCD (253270), Yang et al. (Hum Genet 109:526-534,2001) identified an IVS10+5G-A mutation in 6 patients: 2 patients from the Faroe Islands and a Spanish and a Danish patient were homozygous for the mutation; and a French and a German patient were heterozygous. The haplotype of the HLCS gene in all 6 patients was identical, suggesting a founder mutation. |
| |
| Gene |
HLCS |
| Chromosomal Location |
21q22.1 |
| Allelic Variant 2 |
L514P; HOLOCARBOXYLASE SYNTHETASE DEFICIENCY |
| Identified Mutation |
LEU514PRO |