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

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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 mRNA
See reference mRNA sequence for the AP4M1 gene (NM_004722.4).
RefSeq protein isoforms
See 17 reference sequence protein isoforms for the AP4M1 gene.

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NP_004713 [Domain Mapping of Disease Mut...]
NP_004713
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

Tapirus indicus isolate:mTapInd1
Tapirus indicus isolate:mTapInd1
Tapirus indicus (Malayan tapir) genome, mTapInd1, haplotype 2

BioProject
Dync2i1 dynein 2 intermediate chain 1 [Mus musculus]
Dync2i1 dynein 2 intermediate chain 1 [Mus musculus]
Gene ID:217935

Gene
Mus musculus targeted KO-first, conditional ready, lacZ-tagged mutant allele Ram...
Mus musculus targeted KO-first, conditional ready, lacZ-tagged mutant allele Ramp1:tm1a(EUCOMM)Wtsi; transgenic
gi|354795788|gb|JN960289.1|

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