NA10642
DNA from Fibroblast
Description:
SJOGREN-LARSSON SYNDROME
ALDEHYDE DEHYDROGENASE, FAMILY 3, SUBFAMILY A, MEMBER 2; ALDH3A2
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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 |
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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White
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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 |
8 |
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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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| long-chain-alcohol dehydrogenase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 1.1.1.192; 8% activity. |
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| Gene |
ALDH3A2 |
| Chromosomal Location |
17p11.2 |
| Allelic Variant 1 |
609523.0006; SJOGREN-LARSSON SYNDROME |
| Identified Mutation |
2-BP DEL, 1297GA; In a patient with Sjogren-Larsson syndrome, Tsukamoto et al. [Ann. Hum. Genet. 61: 235-242 (1997)] found a 2-bp deletion at nucleotide 1297 of the ALDH10 gene, with consequent premature chain termination at protein position 434. |
| Remarks |
Mildly affected with congenital ichthyosis, mental retardation, & spastic diplegia of lower extremities; fibroblasts have 8% of control fatty alcohol:NAD+ oxidoreductase activity using octadecanol as substrate; donor subject is a compound heterozygote: allele 1 has a 2 bp deletion at nucleotide 1297 of the ALDH3A2 gene (1297_1298delGA) with consequent premature termination at amino acid 434 and the other allele carries an as yet unidentified mutation. |
| Rizzo WB, Carney G, Lin Z, The molecular basis of Sjogren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene. Am J Hum Genet65(6):1547-60 1999 |
| PubMed ID: 10577908 |
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| Tsukamoto N, Chang C, Yoshida A, Mutations associated with Sjogren-Larsson syndrome. Ann Hum Genet61 ( Pt 3):235-42 1997 |
| PubMed ID: 9250352 |
| dbSNP |
dbSNP ID: 15822 |
| Gene Cards |
ALDH10 |
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ALDH3A2 |
| Gene Ontology |
GO:0004029 aldehyde dehydrogenase (NAD) activity |
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GO:0005783 endoplasmic reticulum |
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GO:0005792 microsome |
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GO:0006629 lipid metabolism |
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GO:0007417 central nervous system development |
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GO:0007422 peripheral nervous system development |
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GO:0008544 epidermis development |
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GO:0016021 integral to membrane |
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GO:0016491 oxidoreductase activity |
| NCBI Gene |
Gene ID:224 |
| NCBI GTR |
270200 SJOGREN-LARSSON SYNDROME; SLS |
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609523 ALDEHYDE DEHYDROGENASE, FAMILY 3, SUBFAMILY A, MEMBER 2; ALDH3A2 |
| OMIM |
270200 SJOGREN-LARSSON SYNDROME; SLS |
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609523 ALDEHYDE DEHYDROGENASE, FAMILY 3, SUBFAMILY A, MEMBER 2; ALDH3A2 |
| Omim Description |
FALDH DEFICIENCYALDEHYDE DEHYDROGENASE 10, INCLUDED; ALDH10, INCLUDED |
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FAO DEFICIENCY |
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FATTY ALCOHOL:NAD+ OXIDOREDUCTASE, DEFICIENCY OF |
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FATTY ALDEHYDE DEHYDROGENASE, DEFICIENCY OF |
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FATTY ALDEHYDE DEHYDROGENASE, INCLUDED; FALDH, INCLUDED |
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ICHTHYOSIS, SPASTIC NEUROLOGIC DISORDER, AND OLIGOPHRENIA |
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SJOGREN-LARSSON SYNDROME |
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SLS |
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