Identity
HGNC
LOCATION
7q22.1
LOCUSID
ALIAS
CPSQ3,MU-4,MU-ARP2,SPG50
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 9179
MIM: 602296
HGNC: 574
Ensembl: ENSG00000221838
Variants:
dbSNP: 9179
ClinVar: 9179
TCGA: ENSG00000221838
COSMIC: AP4M1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37758467 | 2024 | Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia. | 1 |
| 37758467 | 2024 | Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia. | 1 |
| 36371792 | 2023 | Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families. | 1 |
| 36371792 | 2023 | Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families. | 1 |
| 33884525 | 2021 | A novel loss of function mutation in adaptor protein complex 4, subunit mu-1 causing autosomal recessive spastic paraplegia 50. | 1 |
| 33884525 | 2021 | A novel loss of function mutation in adaptor protein complex 4, subunit mu-1 causing autosomal recessive spastic paraplegia 50. | 1 |
| 30337681 | 2019 | Locus and allelic heterogeneity in five families with hereditary spastic paraplegia. | 3 |
| 30337681 | 2019 | Locus and allelic heterogeneity in five families with hereditary spastic paraplegia. | 3 |
| 29535204 | 2018 | Interactions between the Hepatitis C Virus Nonstructural 2 Protein and Host Adaptor Proteins 1 and 4 Orchestrate Virus Release. | 18 |
| 29535204 | 2018 | Interactions between the Hepatitis C Virus Nonstructural 2 Protein and Host Adaptor Proteins 1 and 4 Orchestrate Virus Release. | 18 |
| 25496299 | 2014 | A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency. | 14 |
| 25496299 | 2014 | A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency. | 14 |
| 19559397 | 2009 | Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy. | 81 |
| 19559397 | 2009 | Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy. | 81 |
| 18341993 | 2008 | Accumulation of AMPA receptors in autophagosomes in neuronal axons lacking adaptor protein AP-4. | 79 |
Citation
Dessen P
AP4M1 (adaptor related protein complex 4 subunit mu 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60410/ap4m1-(adaptor-related-protein-complex-4-subunit-mu-1)
