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 |
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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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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 |
4 |
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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; 7% 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. |
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| Gene |
ALDH3A2 |
| Chromosomal Location |
17p11.2 |
| Allelic Variant 2 |
609523.0007; SJOGREN-LARSSON SYNDROME |
| Identified Mutation |
5-BP INS, NT 1311; In a patient with Sjogren-Larsson syndrome, Tsukamoto et al. [Ann. Hum. Genet. 61: 235-242 (1997)] identified compound heterozygosity for a 2-bp deletion at nucleotide 1297 (270200.0006) and a 5-bp insertion at nucleotide 1311 of the ALDH10 gene, resulting in frameshift and premature chain termination at protein position 457. |
| Remarks |
Congenital ichthyosis; mental retardation; spastic diplegia; fibroblasts have 7% of control fatty alcohol:NAD+ oxidoreductase activity using octadecanol as the substrate; similarly affected sister; 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 allele 2 has a 5 bp insertion at nucleotide 1311 (1311_1312insACAAA) resulting in frameshift and premature termination at amino acid 457. |
| Tsukamoto N, Chang C, Yoshida A, Mutations associated with Sjogren-Larsson syndrome. Ann Hum Genet61 ( Pt 3):235-42 1997 |
| PubMed ID: 9250352 |
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| Rizzo WB, Dammann AL, Craft DA, Black SH, Tilton AH, Africk D, Chaves-Carballo E, Holmgren G, Jagell S, Sjogren-Larsson syndrome: inherited defect in the fatty alcohol cycle. J Pediatr115:228-34 1989 |
| PubMed ID: 2666627 |
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| Rizzo WB, Dammann AL, Craft DA, Sjogren-Larsson syndrome. Impaired fatty alcohol oxidation in cultured fibroblasts due to deficient fatty alcohol:nicotinamide adenine dinucleotide oxidoreductase activity. J Clin Invest81:738-44 1988 |
| PubMed ID: 3343337 |
| dbSNP |
dbSNP ID: 20169 |
| 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 |
| Passage Frozen |
4 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
8% |
| Percent O2 |
AMBIENT |
| Medium |
Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent |
| Serum |
10% fetal bovine serum Heat Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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