Entry - *601917 - ALDEHYDE DEHYDROGENASE 3 FAMILY, MEMBER B2; ALDH3B2 - OMIM

 
 
* 601917

ALDEHYDE DEHYDROGENASE 3 FAMILY, MEMBER B2; ALDH3B2


Alternative titles; symbols

ALDEHYDE DEHYDROGENASE 8; ALDH8
ACETALDEHYDE DEHYDROGENASE 8


HGNC Approved Gene Symbol: ALDH3B2

Cytogenetic location: 11q13.2     Genomic coordinates (GRCh38): 11:67,662,155-67,681,252 (from NCBI)


TEXT

▼ Cloning and Expression

Hsu et al. (1995) and Hsu and Chang (1996) reported the cloning, sequencing and expression of the human ALDH8 gene. Hsu and Chang (1996) reported that ALDH8 encodes a deduced 385-amino acid protein with 2 ALDH conserved regions. Northern blot analysis detected expression of ALDH8 in the salivary gland and in no other tissues examined.


▼ Gene Structure

Hsu et al. (1997) determined the structure of the ALDH7 (600466) and ALDH8 genes. The ALDH7 gene spans about 20 kb of genomic DNA and contains 9 coding exons. The ALDH8 gene spans over 10 kb and contains at least 10 exons. The ALDH8 gene contains an in-frame stop codon at the seventeenth codon position from the first initiator methionine. The coding region of the ALDH7 gene shows about 86% nucleotide identity with the corresponding region of the ALDH8 gene. The numbers and positions of the introns of the 2 genes are conserved, suggesting that gene duplication is involved in the expansion of the ALDH gene family. The human ALDH7 and ALDH8 genes have a close evolutionary relationship with human ALDH3 (100660).


▼ Mapping

The International Radiation Hybrid Mapping Consortium mapped the ALDH8 gene to chromosome 11 (U37519).

▼ REFERENCES

  1. Hsu, L. C., Chang, W.-C. Sequencing and expression of the human ALDH8 encoding a new member of the aldehyde dehydrogenase family. Gene 174: 319-322, 1996. [PubMed: 8890755, related citations] [Full Text]

  2. Hsu, L. C., Chang, W.-C., Lin, S. W., Yoshida, A. Cloning and characterization of genes encoding four additional human aldehyde dehydrogenase isozymes. Adv. Exp. Med. Biol. 372: 159-168, 1995. [PubMed: 7484374, related citations] [Full Text]

  3. Hsu, L. C., Chang, W.-C., Yoshida, A. Human aldehyde dehydrogenase genes, ALDH7 and ALDH8: genomic organization and gene structure comparison. Gene 189: 89-94, 1997. [PubMed: 9161417, related citations] [Full Text]


Contributors:
Joanna S. Amberger - updated : 4/2/2001
Creation Date:
Victor A. McKusick : 7/1/1997
Edit History:
carol : 04/14/2014
joanna : 4/4/2001
carol : 4/3/2001
joanna : 4/2/2001
terry : 6/4/1998
alopez : 7/22/1997
mark : 7/2/1997
jenny : 7/1/1997
jenny : 7/1/1997

* 601917

ALDEHYDE DEHYDROGENASE 3 FAMILY, MEMBER B2; ALDH3B2


Alternative titles; symbols

ALDEHYDE DEHYDROGENASE 8; ALDH8
ACETALDEHYDE DEHYDROGENASE 8


HGNC Approved Gene Symbol: ALDH3B2

Cytogenetic location: 11q13.2     Genomic coordinates (GRCh38): 11:67,662,155-67,681,252 (from NCBI)


TEXT

Cloning and Expression

Hsu et al. (1995) and Hsu and Chang (1996) reported the cloning, sequencing and expression of the human ALDH8 gene. Hsu and Chang (1996) reported that ALDH8 encodes a deduced 385-amino acid protein with 2 ALDH conserved regions. Northern blot analysis detected expression of ALDH8 in the salivary gland and in no other tissues examined.


Gene Structure

Hsu et al. (1997) determined the structure of the ALDH7 (600466) and ALDH8 genes. The ALDH7 gene spans about 20 kb of genomic DNA and contains 9 coding exons. The ALDH8 gene spans over 10 kb and contains at least 10 exons. The ALDH8 gene contains an in-frame stop codon at the seventeenth codon position from the first initiator methionine. The coding region of the ALDH7 gene shows about 86% nucleotide identity with the corresponding region of the ALDH8 gene. The numbers and positions of the introns of the 2 genes are conserved, suggesting that gene duplication is involved in the expansion of the ALDH gene family. The human ALDH7 and ALDH8 genes have a close evolutionary relationship with human ALDH3 (100660).


Mapping

The International Radiation Hybrid Mapping Consortium mapped the ALDH8 gene to chromosome 11 (U37519).

REFERENCES

  1. Hsu, L. C., Chang, W.-C. Sequencing and expression of the human ALDH8 encoding a new member of the aldehyde dehydrogenase family. Gene 174: 319-322, 1996. [PubMed: 8890755] [Full Text: https://doi.org/10.1016/0378-1119(96)00087-x]

  2. Hsu, L. C., Chang, W.-C., Lin, S. W., Yoshida, A. Cloning and characterization of genes encoding four additional human aldehyde dehydrogenase isozymes. Adv. Exp. Med. Biol. 372: 159-168, 1995. [PubMed: 7484374] [Full Text: https://doi.org/10.1007/978-1-4615-1965-2_21]

  3. Hsu, L. C., Chang, W.-C., Yoshida, A. Human aldehyde dehydrogenase genes, ALDH7 and ALDH8: genomic organization and gene structure comparison. Gene 189: 89-94, 1997. [PubMed: 9161417] [Full Text: https://doi.org/10.1016/s0378-1119(96)00839-6]


Contributors:
Joanna S. Amberger - updated : 4/2/2001

Creation Date:
Victor A. McKusick : 7/1/1997

Edit History:
carol : 04/14/2014
joanna : 4/4/2001
carol : 4/3/2001
joanna : 4/2/2001
terry : 6/4/1998
alopez : 7/22/1997
mark : 7/2/1997
jenny : 7/1/1997
jenny : 7/1/1997



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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