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] See more...

Aliases for AP4M1 Gene

Aliases for AP4M1 Gene

  • Adaptor Related Protein Complex 4 Subunit Mu 1 2 3 5
  • Mu Subunit Of AP-4 2 3 4
  • Adaptor-Related Protein Complex AP-4 Mu4 Subunit 2 3
  • Adaptor Related Protein Complex 4 Mu 1 Subunit 2 3
  • AP-4 Adaptor Complex Mu Subunit 3 4
  • Mu-Adaptin-Related Protein-2 2 3
  • AP-4 Complex Subunit Mu-1 3 4
  • Mu4-Adaptin 3 4
  • Mu4 3 4
  • Adapter-Related Protein Complex 4 Mu-1 Subunit 3
  • Adapter-Related Protein Complex 4 Subunit Mu-1 3
  • Adaptor-Related Protein Complex 4 Subunit Mu-1 4
  • AP-4 Adapter Complex Mu Subunit 2
  • Mu-Adaptin-Related Protein 2 4
  • MU-ARP2 3
  • Mu-ARP2 4
  • MUARP2 4
  • CPSQ3 3
  • SPG50 3
  • MU-4 3

External Ids for AP4M1 Gene

Previous GeneCards Identifiers for AP4M1 Gene

  • GC07P098233
  • GC07P099296
  • GC07P099310
  • GC07P099343
  • GC07P099537
  • GC07P099699
  • GC07P094334

Summaries for AP4M1 Gene

Entrez Gene Summary for AP4M1 Gene

  • 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]

GeneCards Summary for AP4M1 Gene

AP4M1 (Adaptor Related Protein Complex 4 Subunit Mu 1) is a Protein Coding gene. Diseases associated with AP4M1 include Spastic Paraplegia 50, Autosomal Recessive and Spastic Paraplegia 51, Autosomal Recessive. Among its related pathways are Clathrin derived vesicle budding and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include transporter activity. An important paralog of this gene is AP1M2.

UniProtKB/Swiss-Prot Summary for AP4M1 Gene

  • 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). AP-4 forms a non clathrin-associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system (PubMed:11139587, PubMed:20230749). It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper asymmetric localization of somatodendritic proteins in neurons (By similarity). Within AP-4, the mu-type subunit AP4M1 is directly involved in the recognition and binding of tyrosine-based sorting signals found in the cytoplasmic part of cargos (PubMed:10436028, PubMed:11139587, PubMed:26544806, PubMed:20230749). The adaptor protein complex 4 (AP-4) may also recognize other types of sorting signal (By similarity).

Gene Wiki entry for AP4M1 Gene

Additional gene information for AP4M1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AP4M1 Gene

Genomics for AP4M1 Gene

GeneHancer (GH) Regulatory Elements for AP4M1 Gene

Promoters and enhancers for AP4M1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J100098 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas 558.9 -0.5 -483 5.8 FOXK2 ZBTB40 ZNF217 EP300 SIN3A NRF1 TCF12 MYC POLR2G USF1 AP4M1 MCM7 lnc-TAF6-2 TRIM4 ZSCAN25 ZNF3 ZNF655 SRRT PTCD1 GIGYF1
GH07J100427 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 65 +331.6 331581 11.2 FOXK2 HNRNPK ZBTB40 ZNF217 EP300 SIN3A NRF1 TCF12 POLR2G USF1 PPP1R35 MEPCE ZCWPW1 piR-33055 SRRT ZSCAN25 GIGYF1 TRIM4 ZNF3 ZNF655
GH07J100148 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 60.9 +47.9 47904 2.7 NRF1 POLR2G USF1 SP1 PHF8 PHB2 FOS ZNF639 ZBTB5 ZIC2 HSALNG0059969 LAMTOR4 ZSCAN25 TRIM4 ZNF3 AP4M1 ZNF655 PTCD1 GIGYF1 SRRT
GH07J100076 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 56 -21.3 -21309 6.7 FOXK2 HNRNPK ZBTB40 ZNF217 EP300 CTCF SIN3A NRF1 TCF12 MYC ZNF3 lnc-MCM7-2 AP4M1 ZSCAN21 SRRT GIGYF1 MBLAC1 STAG3L5P PPP1R35 ZSCAN25
GH07J100581 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 44.5 +483.3 483255 5.9 EP300 HNRNPK ZBTB40 ZNF217 SIN3A NRF1 TCF12 POLR2G SP1 PHF8 LRCH4 FBXO24 ZSCAN21 ZSCAN25 SRRT AP4M1 PPP1R35 GIGYF1 TRIM4 SAP25
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AP4M1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AP4M1

Top Transcription factor binding sites by QIAGEN in the AP4M1 gene promoter:
  • c-Myc
  • C/EBPbeta
  • E47
  • Elk-1
  • FOXF2
  • Max1
  • MyoD
  • Pax-4a
  • SEF-1 (1)
  • Tal-1beta

Genomic Locations for AP4M1 Gene

Genomic Locations for AP4M1 Gene
chr7:100,101,412-100,110,345
(GRCh38/hg38)
Size:
8,934 bases
Orientation:
Plus strand
chr7:99,699,130-99,707,968
(GRCh37/hg19)
Size:
8,839 bases
Orientation:
Plus strand

Genomic View for AP4M1 Gene

Genes around AP4M1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AP4M1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AP4M1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AP4M1 Gene

Proteins for AP4M1 Gene

  • Protein details for AP4M1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00189-AP4M1_HUMAN
    Recommended name:
    AP-4 complex subunit mu-1
    Protein Accession:
    O00189
    Secondary Accessions:
    • D6W5U1
    • Q8WV65
    • Q9UHK9

    Protein attributes for AP4M1 Gene

    Size:
    453 amino acids
    Molecular mass:
    49977 Da
    Quaternary structure:
    • Adaptor protein complex 4 (AP-4) is a heterotetramer composed of two large adaptins (epsilon-type subunit AP4E1 and beta-type subunit AP4B1), a medium adaptin (mu-type subunit AP4M1) and a small adaptin (sigma-type AP4S1) (PubMed:10436028, PubMed:10066790, PubMed:11802162). Interacts with tyrosine-based sorting signals on the cytoplasmic tail of cargo proteins such as APP, LAMP2 and NAGPA (PubMed:11139587, PubMed:26544806, PubMed:20230749). Interacts with the C-terminal domain of GRID2 (By similarity). Interacts with GRIA1 and GRIA2; the interaction is indirect via CACNG3 (By similarity). Interacts with CACNG3; CACNG3 associates GRIA1 and GRIA2 with the adaptor protein complex 4 (AP-4) to target them to the somatodendritic compartment of neurons (By similarity).

    Three dimensional structures from OCA and Proteopedia for AP4M1 Gene

neXtProt entry for AP4M1 Gene

Post-translational modifications for AP4M1 Gene

  • Ubiquitination at Lys18 and Lys324
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for AP4M1 Gene

Domains & Families for AP4M1 Gene

Gene Families for AP4M1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for AP4M1 Gene

Blocks:
  • Clathrin adaptor complex, small chain
  • Clathrin adaptor complex, medium chain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AP4M1 Gene

GenScript: Design optimal peptide antigens:
  • Mu4-adaptin (AP4M1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O00189

UniProtKB/Swiss-Prot:

AP4M1_HUMAN :
  • Belongs to the adaptor complexes medium subunit family.
Family:
  • Belongs to the adaptor complexes medium subunit family.
genes like me logo Genes that share domains with AP4M1: view

Function for AP4M1 Gene

Molecular function for AP4M1 Gene

UniProtKB/Swiss-Prot Function:
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). AP-4 forms a non clathrin-associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system (PubMed:11139587, PubMed:20230749). It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper asymmetric localization of somatodendritic proteins in neurons (By similarity). Within AP-4, the mu-type subunit AP4M1 is directly involved in the recognition and binding of tyrosine-based sorting signals found in the cytoplasmic part of cargos (PubMed:10436028, PubMed:11139587, PubMed:26544806, PubMed:20230749). The adaptor protein complex 4 (AP-4) may also recognize other types of sorting signal (By similarity).

Phenotypes From GWAS Catalog for AP4M1 Gene

Gene Ontology (GO) - Molecular Function for AP4M1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0019904 protein domain specific binding IDA 11139587
genes like me logo Genes that share ontologies with AP4M1: view
genes like me logo Genes that share phenotypes with AP4M1: view

Human Phenotype Ontology for AP4M1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AP4M1 Gene

MGI Knock Outs for AP4M1:
  • Ap4m1 Ap4m1<tm1b(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AP4M1

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for AP4M1 Gene

Localization for AP4M1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AP4M1 Gene

Golgi apparatus, trans-Golgi network membrane; Peripheral membrane protein. Early endosome. Note=Found in soma and dendritic shafts of neuronal cells. {ECO:0000250 UniProtKB:Q2PWT8}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AP4M1 gene
Compartment Confidence
golgi apparatus 5
endosome 4
nucleus 3
cytosol 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
lysosome 1

Gene Ontology (GO) - Cellular Components for AP4M1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
GO:0005769 early endosome ISS --
GO:0005794 Golgi apparatus IEA --
GO:0005802 trans-Golgi network IDA 20230749
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with AP4M1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AP4M1 Gene

Pathways & Interactions for AP4M1 Gene

genes like me logo Genes that share pathways with AP4M1: view

Pathways by source for AP4M1 Gene

Gene Ontology (GO) - Biological Process for AP4M1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006605 protein targeting IDA 20230749
GO:0006622 protein targeting to lysosome IDA 11139587
GO:0006886 intracellular protein transport IEA,IMP 20230749
GO:0006895 Golgi to endosome transport IMP 20230749
GO:0008104 protein localization ISS --
genes like me logo Genes that share ontologies with AP4M1: view

No data available for SIGNOR curated interactions for AP4M1 Gene

Drugs & Compounds for AP4M1 Gene

No Compound Related Data Available

Transcripts for AP4M1 Gene

mRNA/cDNA for AP4M1 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AP4M1

Alternative Splicing Database (ASD) splice patterns (SP) for AP4M1 Gene

No ASD Table

Relevant External Links for AP4M1 Gene

GeneLoc Exon Structure for
AP4M1

Expression for AP4M1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AP4M1 Gene

Protein differential expression in normal tissues from HIPED for AP4M1 Gene

This gene is overexpressed in Testis (27.4), Peripheral blood mononuclear cells (13.3), CD8 Tcells (9.5), and Placenta (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AP4M1 Gene



Protein tissue co-expression partners for AP4M1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AP4M1

SOURCE GeneReport for Unigene cluster for AP4M1 Gene:

Hs.632317

mRNA Expression by UniProt/SwissProt for AP4M1 Gene:

O00189-AP4M1_HUMAN
Tissue specificity: Ubiquitous. Highly expressed in testis and lowly expressed in brain and lung.

Evidence on tissue expression from TISSUES for AP4M1 Gene

  • Nervous system(4.7)
  • Spleen(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AP4M1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • salivary gland
  • skull
  • tooth
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with AP4M1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for AP4M1 Gene

Orthologs for AP4M1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AP4M1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AP4M1 31 30
  • 99.78 (n)
OneToOne
cow
(Bos Taurus)
Mammalia AP4M1 31 30
  • 90.34 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AP4M1 31 30
  • 89.9 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ap4m1 17 31 30
  • 86.71 (n)
rat
(Rattus norvegicus)
Mammalia Ap4m1 30
  • 86.24 (n)
oppossum
(Monodelphis domestica)
Mammalia AP4M1 31
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AP4M1 31
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ap4m1 30
  • 63.8 (n)
zebrafish
(Danio rerio)
Actinopterygii ap4m1 31 30
  • 63.64 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APM1 31
  • 24 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G24550 30
  • 46.53 (n)
rice
(Oryza sativa)
Liliopsida Os07g0620300 30
  • 48.89 (n)
Species where no ortholog for AP4M1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AP4M1 Gene

ENSEMBL:
Gene Tree for AP4M1 (if available)
TreeFam:
Gene Tree for AP4M1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AP4M1: view image

Paralogs for AP4M1 Gene

Paralogs for AP4M1 Gene

(4) SIMAP similar genes for AP4M1 Gene using alignment to 11 proteins:

  • AP4M1_HUMAN
  • C9IZL5_HUMAN
  • C9JC87_HUMAN
  • C9JMG3_HUMAN
  • C9JWL4_HUMAN
  • F8WCC5_HUMAN
  • F8WCR6_HUMAN
  • F8WDR3_HUMAN
  • H0Y6K1_HUMAN
  • H7BZV3_HUMAN
  • H7C0A0_HUMAN
genes like me logo Genes that share paralogs with AP4M1: view

Variants for AP4M1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AP4M1 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
639232 Uncertain Significance: Spastic paraplegia 50, autosomal recessive 100,105,315(+) G/A MISSENSE_VARIANT
647801 Uncertain Significance: Spastic paraplegia 50, autosomal recessive 100,106,804(+) C/A MISSENSE_VARIANT
647894 Uncertain Significance: Spastic paraplegia 50, autosomal recessive 100,106,707(+) C/T MISSENSE_VARIANT
659743 Uncertain Significance: Spastic paraplegia 50, autosomal recessive 100,101,957(+) C/G MISSENSE_VARIANT
669080 Likely Benign: not provided 100,106,227(+) C/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for AP4M1 Gene

Structural Variations from Database of Genomic Variants (DGV) for AP4M1 Gene

Variant ID Type Subtype PubMed ID
esv2734888 CNV deletion 23290073
nsv469687 CNV loss 16826518
nsv607931 CNV loss 21841781
nsv951384 CNV deletion 24416366

Variation tolerance for AP4M1 Gene

Residual Variation Intolerance Score: 14.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.56; 55.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AP4M1 Gene

Human Gene Mutation Database (HGMD)
AP4M1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AP4M1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AP4M1 Gene

Disorders for AP4M1 Gene

MalaCards: The human disease database

(19) MalaCards diseases for AP4M1 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search AP4M1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

AP4M1_HUMAN
  • Spastic paraplegia 50, autosomal recessive (SPG50) [MIM:612936]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG50 affected individuals present postnatally with early infantile hypotonia, delayed psychomotor development, strabismus, lack of independent walking and severe mental retardation. They develop progressive spasticity of all limbs with generalized hypertonia, hyperreflexia, and extensor plantar responses by the end of the first year of life. Speech is absent or limited. Pseudobulbar signs, such as drooling, stereotypic laughter, and exaggerated jaw jerk, are part of the clinical picture. {ECO:0000269 PubMed:19559397}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for AP4M1

genes like me logo Genes that share disorders with AP4M1: view

No data available for Genatlas for AP4M1 Gene

Publications for AP4M1 Gene

  1. Identification of two new mu-adaptin-related proteins, mu-ARP1 and mu-ARP2. (PMID: 9013859) Wang X … Kilimann MW (FEBS letters 1997) 2 3 4 23 54
  2. AP-4 binds basolateral signals and participates in basolateral sorting in epithelial MDCK cells. (PMID: 11802162) Simmen T … Hunziker W (Nature cell biology 2002) 3 4 23 54
  3. AP-4, a novel protein complex related to clathrin adaptors. (PMID: 10066790) Dell'Angelica EC … Bonifacino JS (The Journal of biological chemistry 1999) 2 3 4 54
  4. Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering. (PMID: 26544806) Raza MH … Drayna D (American journal of human genetics 2015) 3 4 54
  5. Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. (PMID: 21620353) Abou Jamra R … Colleaux L (American journal of human genetics 2011) 2 3 54

Products for AP4M1 Gene

Sources for AP4M1 Gene