ZC3H12C

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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A change in the ZC3H12C gene was identified in an 18-year-old male with weak and brittle bones (osteoporosis), immune system abnormalities (antinuclear antibody positivity), and type 1 diabetes mellitus (read full description). 

Date of Report

Jun 30, 2021

Full Name

zinc finger CCCH-type containing 12C

Location
Chromosome 11q22.3
Chromosome-11.png

Function

ZC3H12C codes for a CCCH-type zinc finger protein, which regulates macrophage activation (Liang et al., 2008).

Database Links

GeneCards: GC11P110092

NCBI Gene: 85463

OMIM: 615001

UniProtKB/Swiss-Prot: Q9C0D7

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 ZC3H12C
Inheritance Pattern Unknown
Position chr11: g.110023763G>A
Transcript NM_033390.1
DNA Change c.893G>A
Protein Change p.Arg298Gln
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