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ABCA5 resides in lysosomes, and ABCA5 knockout mice develop lysosomal disease-like symptoms.

ABCA5 is a member of the ABC transporter A subfamily, and a mouse orthologue (mABCA5) in newborn mouse brain and neural cells was identified by reverse transcription-PCR. Full-length cDNA cloning revealed that mABCA5 consists of 1,642 amino acid residues and that its putative structure is that of a full-type ABC transporter having two sets of six transmembrane segments and a nucleotide binding domain. Immunohistochemical studies revealed that mABCA5 is expressed in brain, lung, heart, and thyroid gland. A subcellular localization analysis showed that mABCA5 is a resident of lysosomes and late endosomes. Abca5(-)(/)(-) mice exhibited symptoms similar to those of several lysosomal diseases in heart, although no prominent abnormalities were found in brain or lung. They developed a dilated cardiomyopathy-like heart after reaching adulthood and died due to depression of the cardiovascular system. In addition, Abca5(-)(/)(-) mice also exhibited exophthalmos and collapse of the thyroid gland. Therefore, ABCA5 is a protein related to a lysosomal disease and plays important roles, especially in cardiomyocytes and follicular cells.

Pubmed ID: 15870284


  • Kubo Y
  • Sekiya S
  • Ohigashi M
  • Takenaka C
  • Tamura K
  • Nada S
  • Nishi T
  • Yamamoto A
  • Yamaguchi A


Molecular and cellular biology

Publication Data

May 4, 2005

Associated Grants


Mesh Terms

  • ATP-Binding Cassette Transporters
  • Abnormalities, Multiple
  • Amino Acid Sequence
  • Animals
  • Cell Line
  • Cloning, Molecular
  • Exophthalmos
  • Female
  • Gene Deletion
  • Gene Expression Profiling
  • Humans
  • Immunohistochemistry
  • Lysosomes
  • Male
  • Mice
  • Mice, Knockout
  • Molecular Sequence Data
  • Myocardium
  • Protein Transport
  • RNA, Messenger
  • Rats
  • Reverse Transcriptase Polymerase Chain Reaction
  • Thyroid Gland
  • Thyroid Hormones