Entry - *100670 - ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER B1; ALDH1B1 - OMIM

 
 
* 100670

ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER B1; ALDH1B1


Alternative titles; symbols

ALDEHYDE DEHYDROGENASE 5; ALDH5
ACETALDEHYDE DEHYDROGENASE 5


HGNC Approved Gene Symbol: ALDH1B1

Cytogenetic location: 9p13.1     Genomic coordinates (GRCh38): 9:38,392,702-38,398,661 (from NCBI)


TEXT

▼ Cloning and Expression

The 2 aldehyde dehydrogenase isozymes that play a major role in ethanol detoxification, ALDH1 (100640) and ALDH2 (100650), are cytosolic and mitochondrial forms, respectively. Their organization is basically similar; their sizes are 53 kb and 44 kb, respectively, and both contain 13 coding exons interrupted by introns of comparable lengths. Hsu et al. (1989) cloned a novel ALDH gene, ALDH5, from a cosmid human DNA library. Although it contains no introns, Northern blot hybridization of human liver RNA revealed a unique mRNA component that hybridized with this gene probe but with neither the ALDH1 probe or the ALDH2 probe. ALDH5 encodes a deduced 517-amino acid protein that shares 70.6% and 62.8% sequence identity with the ALDH2 and ALDH1 proteins, respectively.

Hsu and Chang (1991) provided a full report on the ALDH5 gene, which they referred to as ALDHx.


▼ Mapping

Hsu et al. (1989) assigned the ALDH5 gene to chromosome 9 by Southern blot analysis of rodent-human hybrid cell DNAs. By in situ hybridization, Hiraoka et al. (1995) mapped the ALDH5 gene to 9p13.


▼ See Also:

▼ REFERENCES

  1. Harada, S., Agarwal, D. P., Goedde, H. W. Electrophoretic and biochemical studies of human aldehyde dehydrogenase isozymes in various tissues. Life Sci. 26: 1773-1780, 1980. [PubMed: 6985464, related citations] [Full Text]

  2. Hiraoka, L. R., Hsu, L., Hsieh, C.-L. Assignment of ALDH3 to human chromosome 17p11.2 and ALDH5 to human chromosome 9p13. Genomics 25: 323-325, 1995. [PubMed: 7774944, related citations] [Full Text]

  3. Hsu, L. C., Chang, W.-C., Yoshida, A. Cloning of a new human aldehyde dehydrogenase gene and comparison with liver cytosolic ALDH1 and mitochondrial ALDH2 genes. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A196 only, 1989.

  4. Hsu, L. C., Chang, W. C. Cloning and characterization of a new functional human aldehyde dehydrogenase gene. J. Biol. Chem. 266: 12257-12265, 1991. [PubMed: 2061311, related citations]


Creation Date:
Victor A. McKusick : 6/4/1986
Edit History:
carol : 07/16/2008
carol : 4/3/2001
dkim : 7/17/1998
dkim : 6/30/1998
jenny : 7/1/1997
terry : 2/7/1995
carol : 10/22/1992
carol : 8/28/1992
supermim : 3/16/1992
supermim : 3/20/1990
carol : 11/7/1989

* 100670

ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER B1; ALDH1B1


Alternative titles; symbols

ALDEHYDE DEHYDROGENASE 5; ALDH5
ACETALDEHYDE DEHYDROGENASE 5


HGNC Approved Gene Symbol: ALDH1B1

Cytogenetic location: 9p13.1     Genomic coordinates (GRCh38): 9:38,392,702-38,398,661 (from NCBI)


TEXT

Cloning and Expression

The 2 aldehyde dehydrogenase isozymes that play a major role in ethanol detoxification, ALDH1 (100640) and ALDH2 (100650), are cytosolic and mitochondrial forms, respectively. Their organization is basically similar; their sizes are 53 kb and 44 kb, respectively, and both contain 13 coding exons interrupted by introns of comparable lengths. Hsu et al. (1989) cloned a novel ALDH gene, ALDH5, from a cosmid human DNA library. Although it contains no introns, Northern blot hybridization of human liver RNA revealed a unique mRNA component that hybridized with this gene probe but with neither the ALDH1 probe or the ALDH2 probe. ALDH5 encodes a deduced 517-amino acid protein that shares 70.6% and 62.8% sequence identity with the ALDH2 and ALDH1 proteins, respectively.

Hsu and Chang (1991) provided a full report on the ALDH5 gene, which they referred to as ALDHx.


Mapping

Hsu et al. (1989) assigned the ALDH5 gene to chromosome 9 by Southern blot analysis of rodent-human hybrid cell DNAs. By in situ hybridization, Hiraoka et al. (1995) mapped the ALDH5 gene to 9p13.


See Also:

Harada et al. (1980)

REFERENCES

  1. Harada, S., Agarwal, D. P., Goedde, H. W. Electrophoretic and biochemical studies of human aldehyde dehydrogenase isozymes in various tissues. Life Sci. 26: 1773-1780, 1980. [PubMed: 6985464] [Full Text: https://doi.org/10.1016/0024-3205(80)90577-9]

  2. Hiraoka, L. R., Hsu, L., Hsieh, C.-L. Assignment of ALDH3 to human chromosome 17p11.2 and ALDH5 to human chromosome 9p13. Genomics 25: 323-325, 1995. [PubMed: 7774944] [Full Text: https://doi.org/10.1016/0888-7543(95)80150-k]

  3. Hsu, L. C., Chang, W.-C., Yoshida, A. Cloning of a new human aldehyde dehydrogenase gene and comparison with liver cytosolic ALDH1 and mitochondrial ALDH2 genes. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A196 only, 1989.

  4. Hsu, L. C., Chang, W. C. Cloning and characterization of a new functional human aldehyde dehydrogenase gene. J. Biol. Chem. 266: 12257-12265, 1991. [PubMed: 2061311]


Creation Date:
Victor A. McKusick : 6/4/1986

Edit History:
carol : 07/16/2008
carol : 4/3/2001
dkim : 7/17/1998
dkim : 6/30/1998
jenny : 7/1/1997
terry : 2/7/1995
carol : 10/22/1992
carol : 8/28/1992
supermim : 3/16/1992
supermim : 3/20/1990
carol : 11/7/1989



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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: May 4, 2024