AP4M1
16th June 2020
AP4B1
1st July 2020

AP4E1

ADAPTOR-RELATED PROTEIN COMPLEX 4

EPSILON-1 SUBUNIT
AP4E1

Gene Description

  • Gene Symbol: AP4E1 Gene Name: adaptor related protein complex 4 subunit epsilon 1 MIM number: 607244 HGNC ID: HGNC: 573 Chromosomal location: 15q21.2 Gene groups: Adaptor related protein complex 4 Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containingGene
  • Function in summary: Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways (PubMed:10066790, PubMed:10436028).
Gene-Phenotype Relationships
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OMIM
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PhenotypePhenotype MIM numberInheritance
Spastic paraplegia 51, autosomal recessive
613744
Autosomal recessive
Spastic paraplegia 51, autosomal recessive
184450
Autosomal Dominant

SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE; SPG5

Clinical synopsis
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GROWTH

Height
- Short stature
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HEAD & NECK

Head

- Microcephaly

Face


- Long narrow face
- Bitemporal narrowing
- Prominent pointed chin
- Short philtrum
- Facial hypotonia
- Coarse facial features
Ears

- Prominent antihelix Eyes

- Downslanting palpebral fissures
- Nystagmus

Nose
- Long nose
- Wide nasal bridge
- Bulbous nose

Mouth

- Wide mouth
- Drooling
SKELETAL
- Joint contractures Feet
- Talipes equinovarus MUSCLE, SOFT TISSUES
- Hypotonia, neonatal and later
- Decreased muscle mass in the thighs MISCELLANEOUS
- Onset at birth
- Two families have been reported (as of June 2011)
NEUROLOGIC

Central Nervous System
- Delayed psychomotor development
- Mental retardation, severe
- Spastic quadriplegia
- Hyperreflexia
- Extensor plantar responses
- Seizures
- Lack of speech development
- Cortical atrophy
- Cerebellar atrophy
- Enlarged ventricles
- Diffuse white matter loss
Behavioral Psychiatric Manifestations

- Stereotypic laughter
- Shy behavior
- Amicable behavior

TBP
TBP

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