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NA10665 DNA from Fibroblast

Description:

CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP
SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 5; SLC22A5

Affected:

Yes

Sex:

Male

Age:

2 YR (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 Lipid Metabolism
Quantity 10 µg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Transformant Untransformed
Sample Source DNA from Fibroblast
Race Asiatic Indian
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; episode of fasting coma and hypoglycemia at 2 years of age; approximately 4% of normal plasma carnitine concentration and no detectable leukocyte carnitine; fibroblasts show almost no detectable carnitine uptake; son of GM10666 and 10667; sequencing of the exons and flanking intron segments of the SLC22A5 (also known as OCTN2) gene found a homozygous mutation R282X (PMID: 10051646).

Characterizations

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Passage Frozen 1
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
Gene SLC22A5
Chromosomal Location 5q31.1
Allelic Variant 1 603377.0008; CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP
Identified Mutation R282X
 
Gene SLC22A5
Chromosomal Location 5q31.1
Allelic Variant 2 603377.0008; CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP
Identified Mutation R282X

Phenotypic Data

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Remarks Clinically affected; episode of fasting coma and hypoglycemia at 2 years of age; approximately 4% of normal plasma carnitine concentration and no detectable leukocyte carnitine; fibroblasts show almost no detectable carnitine uptake; son of GM10666 and 10667; sequencing of the exons and flanking intron segments of the SLC22A5 (also known as OCTN2) gene found a homozygous mutation R282X (PMID: 10051646).

Publications

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Wang Y, Ye J, Ganapathy V, Longo N, Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency. Proc Natl Acad Sci U S A96:2356-60 1999
PubMed ID: 10051646
 
Stanley CA, DeLeeuw S, Coates PM, Vianey-Liaud C, Divry P, Bonnefont JP, Saudubray JM, Haymond M, Trefz FK, Breningstall GN, et al, Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake. Ann Neurol30:709-16 1991
PubMed ID: 1763895

External Links

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dbSNP dbSNP ID: 16151
Gene Cards SLC22A5
Gene Ontology GO:0005524 ATP binding
GO:0005886 plasma membrane
GO:0006811 ion transport
GO:0006814 sodium ion transport
GO:0015075 ion transporter activity
GO:0015226 carnitine transporter activity
GO:0015293 symporter activity
GO:0015879 carnitine transport
GO:0016021 integral to membrane
NCBI Gene Gene ID:6584
NCBI GTR 212140 CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP
603377 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 5; SLC22A5
OMIM 212140 CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP
603377 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 5; SLC22A5
Omim Description CARNITINE DEFICIENCY, PRIMARY
  CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP
  CARNITINE DEFICIENCY, SYSTEMIC, DUE TO DEFECT IN RENAL REABSORPTIONOF CARNITINE
  CARNITINE TRANSPORTER, PLASMA-MEMBRANE, DEFICIENCY OF
  SYSTEMIC CARNITINE DEFICIENCY; SCD
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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