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AP4M1
16th June 2020
AP4B1
1st July 2020AP4E1
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
-*-*-*-*-*-*-*-*-*-*-*-*-*-*-*-*-*-*-*OMIM
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| Phenotype | Phenotype MIM number | Inheritance |
|---|---|---|
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 ------------------------------------ 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 |
|---|---|---|
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