RecName: Full=AP-4 complex subunit mu-1; AltName: Full=AP-4 adaptor co - Protein

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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.
A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency. [BMC Med Genet. 2014]
A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency.
Jameel M, Klar J, Tariq M, Moawia A, Altaf Malik N, Seema Waseem S, Abdullah U, Naeem Khan T, Raininko R, Baig SM, et al. BMC Med Genet. 2014 Dec 14; 15:133. Epub 2014 Dec 14.

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

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O00189 [Domain Mapping of Disease Mut...]
O00189
Domain Mapping of Disease Mutations
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