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)

Function

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

Database Links

GeneCards: ZC3H12C

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 (hg19) chr11:g.110023763G>A

Transcript NM_033390.1

DNA Change c.893G>A

Protein Change p.Arg298Gln

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