KIAA0415 protein, isoform CRA_d [Homo sapiens]

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Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease. [Hum Mol Genet. 2015]
Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease.
Hirst J, Edgar JR, Esteves T, Darios F, Madeo M, Chang J, Roda RH, Dürr A, Anheim M, Gellera C, et al. Hum Mol Genet. 2015 Sep 1; 24(17):4984-96. Epub 2015 Jun 17.
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48. [Brain. 2014]
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.
Pensato V, Castellotti B, Gellera C, Pareyson D, Ciano C, Nanetti L, Salsano E, Piscosquito G, Sarto E, Eoli M, et al. Brain. 2014 Jul; 137(Pt 7):1907-20. Epub 2014 May 15.
Impaired mitochondrial dynamics underlie axonal defects in hereditary spastic paraplegias. [Hum Mol Genet. 2018]
Impaired mitochondrial dynamics underlie axonal defects in hereditary spastic paraplegias.
Denton K, Mou Y, Xu CC, Shah D, Chang J, Blackstone C, Li XJ. Hum Mol Genet. 2018 Jul 15; 27(14):2517-2530.

RefSeq genomic sequence
See the genomic reference sequence for the AP5Z1 gene (NG_028111.1).
RefSeq protein isoforms
See 4 reference sequence protein isoforms for the AP5Z1 gene.

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Protein