AP1G2

On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

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Changes in the AP1G2 gene were identified in a male, age 10, with seizures, structural brain abnormalities, and global developmental delay (read full description).

Date of Report

Mar 07, 2022

Full Name

Adaptor Related Protein Complex 1 Subunit Gamma 2

Location

Chromosome 14 (14q11.2)

Function

The AP1G2 gene encodes for a protein that combines with other proteins to form cellular structures known as clathrin-coated vesicles, which are involved in the transporting of cargo such as proteins between the cell surface and Golgi bodies (Takatsu, et al., 1998).

Database Links

GeneCards: AP1G2

NCBI Gene: 8906

OMIM: 603534

UniProtKB/Swiss-Prot: O75843

Clinical Significance

Changes in this gene were identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.

Gene AP1G2

Inheritance Pattern Unknown

Position (hg19) chr14:g.24030830dup & chr14:g.24033305A>C

Transcript NM_003917.5

DNA Change c.1753dup & c.1041T>G

Protein Change p.Met585AsnfsTer12 & p.His347Gln

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