ANAPC2

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.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

A change in this gene was identified in a male, age 2, with seizures, absent speech, failure to thrive, and small head size (acquired microcephaly) (read full description).

Date of Report

Oct 17, 2019

Full Name

anaphase-promoting complex subunit 2

Location

Chromosome 9 (9q34.3)

Function

The ANAPC2 gene codes for a protein that is a subunit in the anaphase promoting complex. This complex is important for progression through the cell cycle and is involved in the degradation of the spindle fibers, which signals the transition from metaphase to anaphase (Jörgensen et al., 2001).

Database Links

GeneCards: ANAPC2

NCBI Gene: 29882

OMIM: 606946

UniProtKB/Swiss-Prot: Q9UJX6

Clinical Significance

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

Gene ANAPC2

Inheritance Pattern Autosomal dominant

Position (hg19) chr9:g.140076320G>C

Transcript NM_013366.3

DNA Change c.1287-6C>G

Protein Change N/A

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