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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, DKFZp451F117, DKFZp779N2435, EST90625, ...
 
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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].

References

  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)
  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)
 

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