This web page was produced as an assignment for Genetics 677, an undergraduate course at UW-Madison. 

DNA - The ABC1 Gene

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DNA pages:

• Gene homology & phylogeny
• DNA motifs
• Gene sequence (FASTA)

       ABC1 quick                        
          gene facts:

Name: ATP-binding cassette, sub-family A (ABC1), member 1 

Symbols: ABC1, ABCA1, HDLDT1, CERP

Location (hg19): 9q31.1 (bases 4910 to 152154)

Number of bases: FASTA (147,154 bp)                               
                           
                        [1]

       ABCA1 on public                          
              databases

Information about the ABCA1 gene is accessible to the public on the following datbases...

• ENTREZ Gene: ID 19
• GenBank: Accession Number NG_007981

• Ensembl: Accession Number ENSG00000165029
• OMIM: ID 600046
• UniProt KB: ID O95477 
• GeneCards page
  

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About the ABC1 Gene

Location

The Human ABC1 gene is located on the long (q) arm of chromosome 9 in band 31.1, base 4910 to 152154 [2]. 

Image obtained from search of ABC1 at GeneCards.org [3]

Disease Inheritance

A pedigree of a family with a history of Tangier disease [2]

Tangier disease is inherited in an autosomal recessive fashion. This means that an individual must inherit a non-functional ABCA1 gene from both of their parents in order to have Tangier disease [1][2].

Individuals who carry only one faulty copy of this gene have HDL levels approximately 50% below normal. In many Tangier disease patients, HDL levels are nearly undetectable [2].

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Sources

1. http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA1&search=ABC1

2. Rust S. et al. Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy. Nat Genet 20, 96 - 98 (1998) doi:10.1038/1770.