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AP4E1
30th June 2020
AP4B1
1st July 2020AP4B1
ADAPTOR-RELATED PROTEIN COMPLEX 4
BETA-1 SUBUNIT
AP4B1
Gene Description
- Gene Symbol: AP4B1 Gene Name: adaptor related protein complex 4 subunit beta 1 MIM number: 607245 HGNC ID: HGNC: 572 Chromosomal location: 1p13.2 Gene groups: Adaptor related protein complex 4 Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing
- Gene 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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| Phenotype | Phenotype MIM number | Inheritance |
|---|---|---|
Spastic paraplegia 47, autosomal recessive
| 614066
| Autosomal recessive
|
Clinical synopsis
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| GROWTH
Height - Short stature HEAD & NECK Head - Microcephaly Face - Coarse face - Hypotonia face - Bitemporal narrowing - Short philtrum Nose - Wide nasal bridge - Bulbous nose Mouth - Everted upper vermilion - Wide mouth - High-arched palate | SKELETAL - Contractures - Joint hyperlaxity (1 family) Pelvis - Valgosity of the hips (1 family) - Acetabular dysplasia (1 family) Limbs - Genu recurvatum (1 family) Feet - Pes planus (1 family) - Club feet (1 family) MUSCLE, SOFT TISSUES - Hypotonia, neonatal - Hypertonia later MISCELLANEOUS - Onset at birth - Slowly progressive | NEUROLOGIC Central Nervous System - Delayed psychomotor development - Mental retardation, severe - Spasticity - Hyperreflexia - Inability to walk unaided - Waddling gait - Extensor plantar responses - Delayed speech development - Dysarthria - Seizures - Dystonia - Thin corpus callosum - Periventricular white matter abnormalities - White matter loss - Ventriculomegaly Behavioral Psychiatric Manifestations - Stereotypic laughter - Shy character (1 family) |
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