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Protein Coding Gene : Ap4e1 adaptor-related protein complex AP-4, epsilon 1
Primary Identifier  MGI:1336993 Organism  mouse, laboratory
Chromosome  2 NCBI Gene Number  108011
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Predicted to enable cargo adaptor activity. Predicted to act upstream of or within intracellular protein transport and vesicle-mediated transport. Predicted to be located in trans-Golgi network. Predicted to be part of AP-4 adaptor complex. Is expressed in several structures, including alimentary system; brain; eye; genitourinary system; and hemolymphoid system. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 51 and stuttering. Orthologous to human AP4E1 (adaptor related protein complex 4 subunit epsilon 1).
PHENOTYPE: Mice homozygous for a knock-out allele exhibit enlarged lateral ventricles, decreased corpus callosum size, decreased vertical activity, and female anemia. [provided by MGI curators]
  • synonyms:
  • MGI:1916807,
  • expressed sequence AV087807,
  • adaptor-related protein complex AP-4, epsilon 1,
  • AV087807,
  • RIKEN cDNA 9930028M04 gene,
  • RIKEN cDNA 2310033A20 gene,
  • MGI:2139249,
  • Ap4e1,
  • MGI:2442701,
  • 2310033A20Rik,
  • 9930028M04Rik
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2 Involved In Mutations

Trail: ProteinCodingGene

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Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

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5 Pathways

Trail: ProteinCodingGene

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Phenotype

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Disease

Mouse features --> Human diseases

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