NA10641
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 |
| Alternate IDs |
GM17305 [SJOGREN-LARSSON SYNDROME] |
| 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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Ethnicity
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CHILEAN
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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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| PDL at Freeze |
4.84 |
| Passage Frozen |
2 |
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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; 5% activity. |
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| Gene |
ALDH3A2 |
| Chromosomal Location |
17p11.2 |
| Allelic Variant 1 |
609523.0003; SJOGREN-LARSSON SYNDROME |
| Identified Mutation |
3-BP DEL/21-BP INS, ALA314GLY, PRO315ALA; In a 5-year-old girl with Sjogren-Larsson syndrome born to consanguineous parents of mixed European origin, De Laurenzi et al. [Nature Genet. 12: 52-57 (1996)] found a 3-bp deletion of the FALDH gene (NT941-943) combined with a 21-bp insertion in both alleles. This mutation resulted in ala314-to-gly and pro315-to-ala substitutions with insertion of 6 amino acids (A-K-S-T-V-G) between the pair. Significantly, pro315 is invariably conserved among 16 other ALDHs and is therefore likely to have an essential role in enzyme function. |
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| Gene |
ALDH3A2 |
| Chromosomal Location |
17p11.2 |
| Allelic Variant 2 |
609523.0003; SJOGREN-LARSSON SYNDROME |
| Identified Mutation |
3-BP DEL/21-BP INS, ALA314GLY, PRO315ALA; In a 5-year-old girl with Sjogren-Larsson syndrome born to consanguineous parents of mixed European origin, De Laurenzi et al. [Nature Genet. 12: 52-57 (1996)] found a 3-bp deletion of the FALDH gene (NT941-943) combined with a 21-bp insertion in both alleles. This mutation resulted in ala314-to-gly and pro315-to-ala substitutions with insertion of 6 amino acids (A-K-S-T-V-G) between the pair. Significantly, pro315 is invariably conserved among 16 other ALDHs and is therefore likely to have an essential role in enzyme function. |
| Remarks |
Congenital ichthyosis; mental retardation; spastic quadriplegia; fibroblasts have 5% of control fatty alcohol:NAD+ oxidoreductase activity using octadecanol as the substrate; donor subject is homozygous for a 3 bp deletion at nucleotide 941 with a 21 bp insertion at the intron 6/exon 7 junction of the ALDH3A2 gene (941_943delCCC + ins21nt) leading to amino acid substitutions [Ala314Gly (A314G)] and [Pro315Ala (P315A)] accompanied by the addition of six amino acids, Ala-Lys-Ser-Thr-Val-Gly between the pair |
| 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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| De Laurenzi V, Rogers GR, Hamrock DJ, Marekov LN, Steinert PM, Compton JG, Markova N, Rizzo WB, Sjogren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. Nat Genet12(1):52-7 1996 |
| PubMed ID: 8528251 |
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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 |
| dbSNP |
dbSNP ID: 11406 |
| 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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