NA10665
DNA from Fibroblast
Description:
CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP
SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 5; SLC22A5
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Lipid Metabolism |
| Quantity |
50 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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Asiatic Indian
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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 |
1 |
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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 |
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| Gene |
SLC22A5 |
| Chromosomal Location |
5q31.1 |
| Allelic Variant 1 |
603377.0008; CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP |
| Identified Mutation |
R282X |
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| Gene |
SLC22A5 |
| Chromosomal Location |
5q31.1 |
| Allelic Variant 2 |
603377.0008; CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP |
| Identified Mutation |
R282X |
| 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).
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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 |
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| 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 |
| dbSNP |
dbSNP ID: 16151 |
| Gene Cards |
SLC22A5 |
| Gene Ontology |
GO:0005524 ATP binding |
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GO:0005886 plasma membrane |
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GO:0006811 ion transport |
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GO:0006814 sodium ion transport |
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GO:0015075 ion transporter activity |
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GO:0015226 carnitine transporter activity |
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GO:0015293 symporter activity |
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GO:0015879 carnitine transport |
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GO:0016021 integral to membrane |
| NCBI Gene |
Gene ID:6584 |
| NCBI GTR |
212140 CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP |
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603377 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 5; SLC22A5 |
| OMIM |
212140 CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP |
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603377 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 5; SLC22A5 |
| Omim Description |
CARNITINE DEFICIENCY, PRIMARY |
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CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP |
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CARNITINE DEFICIENCY, SYSTEMIC, DUE TO DEFECT IN RENAL REABSORPTIONOF CARNITINE |
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CARNITINE TRANSPORTER, PLASMA-MEMBRANE, DEFICIENCY OF |
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SYSTEMIC CARNITINE DEFICIENCY; SCD |
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