AP-4 complex subunit mu-1 isoform X1 [Homo sapiens]

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Intrathecal AAV9/AP4M1 gene therapy for hereditary spastic paraplegia 50 shows safety and efficacy in preclinical studies. [J Clin Invest. 2023]
Intrathecal AAV9/AP4M1 gene therapy for hereditary spastic paraplegia 50 shows safety and efficacy in preclinical studies.
Chen X, Dong T, Hu Y, De Pace R, Mattera R, Eberhardt K, Ziegler M, Pirovolakis T, Sahin M, Bonifacino JS, et al. J Clin Invest. 2023 May 15; 133(10). Epub 2023 May 15.
Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families. [Clin Genet. 2023]
Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.
Becker A, Felici C, Lambert L, de Saint Martin A, Abi-Warde MT, Schaefer E, Zix C, Zamani M, Sadeghian S, Zeighami J, et al. Clin Genet. 2023 Mar; 103(3):346-351. Epub 2022 Dec 2.
A novel loss of function mutation in adaptor protein complex 4, subunit mu-1 causing autosomal recessive spastic paraplegia 50. [Neurol Sci. 2021]
A novel loss of function mutation in adaptor protein complex 4, subunit mu-1 causing autosomal recessive spastic paraplegia 50.
Bellad A, Girimaji SC, Muthusamy B. Neurol Sci. 2021 Dec; 42(12):5311-5319. Epub 2021 Apr 21.

RefSeq genomic sequence
See the genomic reference sequence for the AP4M1 gene (NG_016312.1).
RefSeq mRNA
See reference mRNA sequence for the AP4M1 gene (XM_047421024.1).
RefSeq protein isoforms
See 17 reference sequence protein isoforms for the AP4M1 gene.

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Protein