AP4M1 Chromosome 7
Adaptor related protein complex 4 subunit mu 1
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What This Gene Does
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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Adaptor related protein complex 4
Locus Type
gene with protein product
Location
7q22.1
Ensembl
ENSG00000221838
Associated Conditions (16)
Hereditary spastic paraplegia 50
Hereditary spastic paraplegia
AP4M1-related disorder
Inborn genetic diseases
Clear cell carcinoma of kidney
Acute myeloid leukemia
Lung cancer
Spastic paraplegia
Intellectual disability
Abnormality of the nervous system
CNS hypomyelination
Brain atrophy
Microcephaly
Hypoplasia of the corpus callosum
Global developmental delay
AP-4 deficiency syndrome
Key Variants
RS1293317548
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 50, Hereditary spastic paraplegia, Hereditary spastic paraplegia 50
Health Risk
RS138131967
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50
Health Risk
RS138437966
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 50, AP4M1-related disorder, Hereditary spastic paraplegia 50
Health Risk
RS141754568
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 50, Hereditary spastic paraplegia, AP4M1-related disorder
Health Risk
RS147738731
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 50, Hereditary spastic paraplegia, AP4M1-related disorder
Health Risk
RS151301464
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Hereditary spastic paraplegia 50, AP4M1-related disorder
Health Risk
RS200347699
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 50, AP4M1-related disorder, Hereditary spastic paraplegia 50
Health Risk
RS367614875
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50
Health Risk
RS372511561
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 50, Inborn genetic diseases, Clear cell carcinoma of kidney
Health Risk
RS372787797
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50
Health Risk
RS377178447
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 50, Inborn genetic diseases, Hereditary spastic paraplegia 50
Health Risk
RS531148057
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50
Health Risk
All Variants (73)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2116643498 | Health Risk | Pathogenic | Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50 |
| RS2116668499 | Health Risk | Pathogenic | Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50 |
| RS2546946932 | Health Risk | Pathogenic | Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50 |
| RS2546950411 | Health Risk | Pathogenic | — |
| RS2546958669 | Health Risk | Pathogenic | Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50 |
| RS2546963629 | Health Risk | Pathogenic | Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50 |
| RS369459721 | Health Risk | Pathogenic | Hereditary spastic paraplegia 50, Intellectual disability, Spastic paraplegia |
| RS372641895 | Health Risk | Pathogenic | Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50 |
| RS730882249 | Health Risk | Pathogenic | CNS hypomyelination, Brain atrophy, Microcephaly |
| RS751742955 | Health Risk | Pathogenic | Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50 |
| RS752598529 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS757055499 | Health Risk | Pathogenic | Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50 |
| RS776788025 | Health Risk | Pathogenic | Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50 |
| RS780030221 | Health Risk | Pathogenic | Hereditary spastic paraplegia 50, Spastic paraplegia, Hereditary spastic paraplegia 50 |
| RS1432802140 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1562912305 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 50, Intellectual disability, Spastic paraplegia |
| RS387906838 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 50, Spastic paraplegia, AP-4 deficiency syndrome |
| RS754498075 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 50, Spastic paraplegia, Inborn genetic diseases |
| RS764326593 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50 |
| RS770705832 | Health Risk | Pathogenic/Likely pathogenic | AP4M1-related disorder, Hereditary spastic paraplegia 50, Spastic paraplegia |
| RS772119268 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50 |
| RS777220438 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, Hereditary spastic paraplegia 50, Intellectual disability |
| RS797045249 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 50, Intellectual disability, Hereditary spastic paraplegia 50 |