The AP4M1 gene homepage

General information
Gene symbol AP4M1
Gene name adaptor-related protein complex 4, mu 1 subunit
Chromosome 7
Chromosomal band q22.1
Imprinted Unknown
Genomic reference NG_016312.1
Transcript reference NM_004722.3
Exon/intron information NM_004722.3 exon/intron table
Associated with diseases CP, SPG-50
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 57
Unique public DNA variants reported 45
Individuals with public variants 137
Hidden variants 18
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated April 07, 2021
Version AP4M1:210407

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_004722.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/AP4M1
HGNC 574
Entrez Gene 9179
PubMed articles AP4M1
OMIM - Gene 602296
OMIM - Diseases SPG-50 ( CPSQ-3)
HGMD AP4M1
GeneCards AP4M1
GeneTests AP4M1
Orphanet AP4M1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00002647 7 adaptor-related protein complex 4, mu 1 subunit NM_004722.3 NP_004713.2 57


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