Gene: AP4M1

Alternate names for this Gene: CPSQ3|MU-4|MU-ARP2|SPG50

Gene 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.

Gene is located in Chromosome: 7

Location in Chromosome : 7q22.1

Description of this Gene: adaptor related protein complex 4 subunit mu 1

Type of Gene: protein-coding

Gene: MCM7

Alternate names for this Gene: CDC47|MCM2|P1.1-MCM3|P1CDC47|P85MCM|PNAS146|PPP1R104

Gene Summary: The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 4 and 6 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. Cyclin D1-dependent kinase, CDK4, is found to associate with this protein, and may regulate the binding of this protein with the tumorsuppressor protein RB1/RB. Alternatively spliced transcript variants encoding distinct isoforms have been reported.

Gene is located in Chromosome: 7

Location in Chromosome : 7q22.1

Description of this Gene: minichromosome maintenance complex component 7

Type of Gene: protein-coding

rs999885 in AP4M1;MCM7 gene and Age at menarche PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.