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AP4B1
16th June 2020
AP4M1
16th June 2020AP4M1
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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| Phenotype | Phenotype MIM number | Inheritance |
|---|---|---|
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 |
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