NA10667
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 |
| Alternate IDs |
GM17027 [CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP] |
| Quantity |
0.050mg |
| 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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3
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Relation to Proband
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father
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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 |
| |
| Gene |
SLC22A5 |
| Chromosomal Location |
5q31.1 |
| Allelic Variant 1 |
603377.0008; CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP |
| Identified Mutation |
R282X |
| Remarks |
Indian; clinically normal; slightly below normal plasma carnitine level; fibroblasts show carnitine uptake velocities intermediate between affecteds and controls; father of GM10665 |
| Pilia G, MacMillan S, Nagaraja R, Mumm S, Weissenbach J, Schlessinger D, YAC/STS map of 9 Mb of Xq26 at 100-kb resolution, localizing 6 ESTs, 6 genes, and 32 genetic markers. Genomics34:55-62 1996 |
| PubMed ID: 8661023 |
| dbSNP |
dbSNP ID: 11416 |
| 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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