AP4M1
1st July 2020

AP4B1

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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OMIM
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PhenotypePhenotype MIM numberInheritance
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)

TBP
TBP

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