| First Author | Kubo Y | Year | 2005 |
| Journal | Mol Cell Biol | Volume | 25 |
| Issue | 10 | Pages | 4138-49 |
| PubMed ID | 15870284 | Mgi Jnum | J:99152 |
| Mgi Id | MGI:3581349 | Doi | 10.1128/MCB.25.10.4138-4149.2005 |
| Citation | Kubo Y, et al. (2005) ABCA5 resides in lysosomes, and ABCA5 knockout mice develop lysosomal disease-like symptoms. (Correction: v.25(13):5786). Mol Cell Biol 25(10):4138-49 |
| abstractText | 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. |
