ZNF169

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 de novo change in the MAMDC4 gene was identified in a UDN participant with behavioral disorders, congenital heart defects, and a brain malformation.

Date of Report

Jun 05, 2023

Full Name

Zinc Finger Protein 169

Location

Chromosome 9 (9q22.32)

Function

The function of ZNF169 is not well described. It is believed to be involved in enabling DNA-binding transcription repressor activity and negative regulation of transcription by RNA polymerase II (Alliance of Genome Resources, 2022).

Database Links

GeneCards: ZNF169

NCBI Gene: 169841

OMIM: 603404

UniProtKB/Swiss-Prot: Q14929

Clinical Significance

A de novo heterozygous 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 ZNF169

Inheritance Pattern Unknown

Position (hg19) chr9:g.97062409A>G

Transcript NM_003448.2

DNA Change c.572A>G

Protein Change p.Gln191Arg

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