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Gene Review

ABCA5  -  ATP-binding cassette, sub-family A (ABC1),...

Homo sapiens

Synonyms: ABC13, ATP-binding cassette sub-family A member 5, EST90625, KIAA1888
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High impact information on ABCA5

  • ABCA5 resides in lysosomes, and ABCA5 knockout mice develop lysosomal disease-like symptoms [1].
  • Furthermore, the existence of a novel non-translated exon of the ABCA5 gene, previously assigned to an ABCA gene cluster in the chromosomal region 17q24.2-3, is demonstrated [2].
  • Abca5 and ABCA5 cDNAs are predicted to give rise to proteins of 1642 amino acids which exhibit the typical domain arrangement of ABC full transporters and share 90% identity within the amino acid sequences [2].


  1. ABCA5 resides in lysosomes, and ABCA5 knockout mice develop lysosomal disease-like symptoms. Kubo, Y., Sekiya, S., Ohigashi, M., Takenaka, C., Tamura, K., Nada, S., Nishi, T., Yamamoto, A., Yamaguchi, A. Mol. Cell. Biol. (2005) [Pubmed]
  2. Cloning of human and rat ABCA5/Abca5 and detection of a human splice variant. Petry, F., Kotthaus, A., Hirsch-Ernst, K.I. Biochem. Biophys. Res. Commun. (2003) [Pubmed]
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