AP4B1
16th June 2020
AP4M1
16th June 2020

AP4M1

ADAPTOR-RELATED PROTEIN COMPLEX 4

MU-1 SUBUNIT
AP4M1

Gene Description

  • Gene Symbol: AP4M1 Gene Name: adaptor related protein complex 4 subunit mu 1 MIM number: 602296 HGNC ID: HGNC: 574 Chromosomal location: 7q22.1 Gene groups: Adaptor related protein complex 4
  • 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:10436028, PubMed:11139587, PubMed:10066790, PubMed:11802162, PubMed:20230749).
Gene-Phenotype Relationships
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OMIM
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PhenotypePhenotype MIM numberInheritance
Spastic paraplegia 50, autosomal recessive
612936
Autosomal recessive

Clinical synopsis
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HEAD & NECK

Head

- Microcephaly
Face

- Pseudobulbar signs
- Drooling
- Dysmorphic facial features (in some patients)
- Coarse face
- Bitemporal narrowing
- Short philtrum
- Hypotonic face

Eyes

- Strabismus

Nose

- Bulbous nose
- Broad nasal ridge

Mouth

- Everted upper vermilion
- Prominent jaw reflex
- Wide mouth
- High-arched palate
SKELETAL


Hands
- Adducted thumbs
Feet
- Club feet MISCELLANEOUS


- Onset at birth or prenatally
NEUROLOGIC


Central Nervous System
- Delayed psychomotor development
- Mental retardation, severe
- Loss of ambulation
- Spastic quadriplegia
- Hyperreflexia
- Extensor plantar responses
- Hypotonia, neonatal
- Hypertonia
- Lack of speech development
- Seizures
- Cerebellar atrophy
- Thin corpus callosum
- Ventriculomegaly
- White matter lesions
- Decreased myelin
- Gliosis
- Neuroaxonal abnormalities

TBP
TBP

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