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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

ABCA13  -  ATP-binding cassette, sub-family A (ABC1),...

Homo sapiens

Synonyms: ATP-binding cassette sub-family A member 13, FLJ33876, FLJ33951
 
 
 
 
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Disease relevance of ABCA13

  • The ABCA13 gene maps to chromosome 7p12.3, a region that contains an inherited disorder affecting the pancreas (Shwachman-Diamond syndrome) as well as a locus involved in T-cell tumor invasion and metastasis (INM7), and therefore is a positional candidate for these pathologies [1].
 

High impact information on ABCA13

  • Like the other ABCA subfamily members, ABCA13 contains a hydrophobic, predicted transmembrane segment at the N-terminus, followed by a large hydrophilic region [1].
  • In this study, we describe a new, unusually large gene on chromosome 7p12.3, ABCA13 [1].
  • In the case of ABCA13, the hydrophilic region is unexpectedly large, more than 3,500 amino acids, encoded by 30 exons, two of which are 4.8 and 1.7 kb in length [1].

References

  1. The human ATP binding cassette gene ABCA13, located on chromosome 7p12.3, encodes a 5058 amino acid protein with an extracellular domain encoded in part by a 4.8-kb conserved exon. Prades, C., Arnould, I., Annilo, T., Shulenin, S., Chen, Z.Q., Orosco, L., Triunfol, M., Devaud, C., Maintoux-Larois, C., Lafargue, C., Lemoine, C., Denèfle, P., Rosier, M., Dean, M. Cytogenet. Genome Res. (2002) [Pubmed]
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