NA10309
DNA from Fibroblast
Description:
HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
HOLOCARBOXYLASE SYNTHETASE; HLCS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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Black/African American
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
6 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
HLCS |
| Chromosomal Location |
21q22.1 |
| Allelic Variant 1 |
253270.0006; HOLOCARBOXYLASE SYNTHETASE DEFICIENCY |
| Identified Mutation |
VAL550MET; In a large survey of HLCS mutations in patients with biotin-responsive MCD (253270), Yang et al. (2001) identified a 1648G-A transition in the HLCS gene, resulting in a val550-to-met (V550M) substitution. The mutation was found in both Japanese and European patients. The V550M mutation was previously reported by Aoki et al. (Pediat Res 42:849-854,1997) who determined that it is within the putative biotin-binding site of the protein. Aoki et al. (1997) reported the mutation as 1935G-A. |
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| Gene |
HLCS |
| Chromosomal Location |
21q22.1 |
| Allelic Variant 2 |
R656X; HOLOCARBOXYLASE SYNTHETASE DEFICIENCY |
| Identified Mutation |
ARG565TER |
| Remarks |
Metabolic acidosis; organic acidemia; deficient fibroblast pyruvate carboxylase, propionyl CoA carboxylase, & 3-methylcrotonyl CoA carboxylase activity; biotin responsive; donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 1648 of the HLCS gene (c.1648G>A) resulting in the substitution of methionine for valine at codon 550 [Val550Met (V550M)]and a second allele has a C>T change at nucleotide 1980 (c.1980C>T) resulting in a premature termination at codon 565 [Arg565Ter (R565X)] |
| Tang NL, Hui J, Yong CK, Wong LT, Applegarth DA, Vallance HD, Law LK, Fung SL, Mak TW, Sung YM, Cheung KL, Fok TF, A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency. Clin Biochem36(2):145-9 2003 |
| PubMed ID: 12633764 |
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