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NA10309 DNA from Fibroblast

Description:

HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
HOLOCARBOXYLASE SYNTHETASE; HLCS

Affected:

Yes

Sex:

Male

Age:

4 MO (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Carbohydrate Metabolism
Quantity 10 µg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Transformant Untransformed
Sample Source DNA from Fibroblast
Race Black/African American
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
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)]

Characterizations

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Passage Frozen 6
 
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.
 
Gene HLCS
Chromosomal Location 21q22.1
Allelic Variant 2 R656X; HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
Identified Mutation ARG565TER

Phenotypic Data

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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)]

Publications

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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

External Links

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dbSNP dbSNP ID: 11354
Gene Cards HLCS
Gene Ontology GO:0004077 biotin-[acetyl-CoA-carboxylase] ligase activity
GO:0004078 biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity
GO:0004079 biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity
GO:0004080 biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity
GO:0006464 protein modification
GO:0016874 ligase activity
NCBI Gene Gene ID:3141
NCBI GTR 253270 HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
609018 HOLOCARBOXYLASE SYNTHETASE; HLCS
OMIM 253270 HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
609018 HOLOCARBOXYLASE SYNTHETASE; HLCS
Omim Description HLCS DEFICIENCY
  HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
  MULTIPLE CARBOXYLASE DEFICIENCY, BIOTIN-RESPONSIVE; MCD
  MULTIPLE CARBOXYLASE DEFICIENCY, NEONATAL FORMHOLOCARBOXYLASE SYNTHETASE; HLCS, INCLUDED
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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How to Order
  • Ordering Instructions
  • MTA / Assurance Form
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