Adaptor-related protein complex 4, epsilon 1 subunit [Homo sapiens]

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Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. [Brain. 2020]
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
Ebrahimi-Fakhari D, Teinert J, Behne R, Wimmer M, D'Amore A, Eberhardt K, Brechmann B, Ziegler M, Jensen DM, Nagabhyrava P, et al. Brain. 2020 Oct 1; 143(10):2929-2944.
Comprehensive genotype-phenotype correlation in AP-4 deficiency syndrome; Adding data from a large cohort of Iranian patients. [Clin Genet. 2021]
Comprehensive genotype-phenotype correlation in AP-4 deficiency syndrome; Adding data from a large cohort of Iranian patients.
Beheshtian M, Akhtarkhavari T, Mehvari S, Mohseni M, Fattahi Z, Abedini SS, Arzhangi S, Fadaee M, Jamali P, Najafipour R, et al. Clin Genet. 2021 Jan; 99(1):187-192. Epub 2020 Sep 14.
Linkage analysis of a large African family segregating stuttering suggests polygenic inheritance. [Hum Genet. 2013]
Linkage analysis of a large African family segregating stuttering suggests polygenic inheritance.
Raza MH, Gertz EM, Mundorff J, Lukong J, Kuster J, Schäffer AA, Drayna D. Hum Genet. 2013 Apr; 132(4):385-96. Epub 2012 Dec 13.

RefSeq genomic sequence
See the genomic reference sequence for the AP4E1 gene (NG_031875.2).
RefSeq protein isoforms
See 14 reference sequence protein isoforms for the AP4E1 gene.

Nucleotide
Nucleotide sequence from coding region
PubMed
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Taxonomy
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Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

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Protein