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NA10642 DNA from Fibroblast

Description:

SJOGREN-LARSSON SYNDROME
ALDEHYDE DEHYDROGENASE, FAMILY 3, SUBFAMILY A, MEMBER 2; ALDH3A2

Affected:

Yes

Sex:

Male

Age:

5 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Lipid Metabolism
Quantity 10 µg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Transformant Untransformed
Sample Source DNA from Fibroblast
Race White
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
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.

Characterizations

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Passage Frozen 8
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
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.
 
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.

Phenotypic Data

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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.

Publications

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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
 
Tsukamoto N, Chang C, Yoshida A, Mutations associated with Sjogren-Larsson syndrome. Ann Hum Genet61 ( Pt 3):235-42 1997
PubMed ID: 9250352

External Links

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dbSNP dbSNP ID: 15822
Gene Cards ALDH10
ALDH3A2
Gene Ontology GO:0004029 aldehyde dehydrogenase (NAD) activity
GO:0005783 endoplasmic reticulum
GO:0005792 microsome
GO:0006629 lipid metabolism
GO:0007417 central nervous system development
GO:0007422 peripheral nervous system development
GO:0008544 epidermis development
GO:0016021 integral to membrane
GO:0016491 oxidoreductase activity
NCBI Gene Gene ID:224
NCBI GTR 270200 SJOGREN-LARSSON SYNDROME; SLS
609523 ALDEHYDE DEHYDROGENASE, FAMILY 3, SUBFAMILY A, MEMBER 2; ALDH3A2
OMIM 270200 SJOGREN-LARSSON SYNDROME; SLS
609523 ALDEHYDE DEHYDROGENASE, FAMILY 3, SUBFAMILY A, MEMBER 2; ALDH3A2
Omim Description FALDH DEFICIENCYALDEHYDE DEHYDROGENASE 10, INCLUDED; ALDH10, INCLUDED
  FAO DEFICIENCY
  FATTY ALCOHOL:NAD+ OXIDOREDUCTASE, DEFICIENCY OF
  FATTY ALDEHYDE DEHYDROGENASE, DEFICIENCY OF
  FATTY ALDEHYDE DEHYDROGENASE, INCLUDED; FALDH, INCLUDED
  ICHTHYOSIS, SPASTIC NEUROLOGIC DISORDER, AND OLIGOPHRENIA
  SJOGREN-LARSSON SYNDROME
  SLS
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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