Home > Gene Browser > AP4M1

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

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
11
Likely pathogenic
1
VUS
13,225
Likely benign
20,911
Benign
544

Patient phenotypes

Proportions of phenotypes among 12 patients carrying pathogenic or likely pathogenic variants on AP4M1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50%
Abnormality of the musculoskeletal system
33.3%
Abnormality of head or neck
25%
Abnormality of the cardiovascular system
16.7%
Abnormality of blood and blood-forming tissues
8.3%
Abnormality of limbs
8.3%
Abnormality of the digestive system
8.3%
Abnormality of the ear
8.3%
Abnormality of the endocrine system
8.3%
Abnormality of the eye
8.3%
Abnormality of the immune system
8.3%
Abnormality of the integument
8.3%
Constitutional symptom
8.3%
Growth abnormality
8.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the genitourinary system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes