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AP4M1

Synonyms
CPSQ3, MU-4, MU-ARP2, SPG50
External resources
Summary
This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the endosomal-lysosomal system.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
5
Likely pathogenic
2
VUS
5,948
Likely benign
4,937
Benign
283

Patient phenotypes

Proportions of phenotypes among 7 patients carring pathogenic or likely pathogenic variants on AP4M1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the ear
42.9%
Abnormality of the cardiovascular system
28.6%
Abnormality of the nervous system
28.6%
Abnormality of head or neck
14.3%
Abnormality of the eye
14.3%
Abnormality of the musculoskeletal system
14.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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