Skip NavigationSkip to Content
Return Return to Search Results

Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34

  1. Author:
    Annilo, T.
    Shulenin, S.
    Chen, Z. Q.
    Arnould, I.
    Prades, C.
    Lemoine, C.
    Maintoux-Larois, C.
    Devaud, C.
    Dean, M.
    Denefle, P.
    Rosier, M.

  2. Author Address

    NCI Frederick, Human Genet Sect, Lab Genom Divers, Bld 560,Rm 21-18, Frederick, MD 21702 USA NCI Frederick, Human Genet Sect, Lab Genom Divers, Frederick, MD 21702 USA NCI Frederick, Intramural Res & Support Program, SAIC Frederick, Frederick, MD 21702 USA Aventis Pharma SA, Funct Genom, Vitry Sur Seine, France Dean M NCI Frederick, Human Genet Sect, Lab Genom Divers, Bld 560,Rm 21-18, Frederick, MD 21702 USA
    1. Year: 2002
  2. Journal: Cytogenetic and Genome Research
    1. 98
    2. 2-3
    3. Pages: 169-176
  4. Type of Article: Article
  1. Abstract:

    The ABCA subfamily of ABC transporters includes ten members to date. In this study, we describe an additional gene, ABCA12. Four full-length cDNA sequences have been obtained from human placenta that contain two different polyadenylation sites and two splicing forms, coding for ABCA12 isoforms of 2,595 and 2,516 amino acid residues. Both isoforms are predicted to have two ATP-binding domains (nucleotide binding domain, NBD) and two transmembrane (TM) domains, features shared by all other ABCA subfamily proteins. ABCA12 is most closely related to ABCA1, with an amino acid similarity of 47%. Northern blot analysis demonstrates that a 9.5-kb transcript is mainly expressed in the stomach. ABCA12 was mapped to human chromosome 2q34. Two other genes from ABCA subfamily are associated with human inherited diseases, ABCA1 with the cholesterol transport disorders Tangier disease and familial hypoalphalipoproteinemia, and ABCA4 with several retinal degeneration disorders. The ABCA12 gene is located in a region of chromosome 2q34 that harbors the genes for lamellar ichthyosis, polymorphic congenital cataract, and insulin- dependent diabetes mellitus (IDDM 13), and therefore is a positional candidate for these pathologies. Copyright (C) 2002 S. Karger AG, Basel.

    See More

  1. Keywords:

External Sources

  1. No sources found.

Library Notes

  1. No notes added.
NCI at Frederick

You are leaving a government website.

This external link provides additional information that is consistent with the intended purpose of this site. The government cannot attest to the accuracy of a non-federal site.

Linking to a non-federal site does not constitute an endorsement by this institution or any of its employees of the sponsors or the information and products presented on the site. You will be subject to the destination site's privacy policy when you follow the link.

ContinueCancel