ZNF331

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 ZNF331 gene was identified in a UDN participant global developmental delay, decreased muscle tone (hypotonia), delayed brain development (delayed myelination), visual impairment, and a large head size (macrocephaly) (read full description).

Date of Report

Feb 07, 2023

Full Name

Zinc finger protein 331

Location

Chromosome 19 (19q13.42)

Function

ZNF331 gene may play a role in spermatogenesis (Wu et al., 2001). This gene encodes a zinc finger protein containing a KRAB (Kruppel-associated box) domain which plays a role in transcription (Sobocinska et al., 2021).

Database Links

GeneCards: ZNF331

NCBI Gene: 55422

OMIM: 606043

UniProtKB/Swiss-Prot: Q9NQX6

Clinical Significance

A change in this gene was identified in a UDN participant.

RNAseq showed abnormally decreased expression of ZNF331 and abnormal splicing to neighboring gene DPRX.

Gene ZNF331

Inheritance Pattern Maternally imprinted

Position (hg19) chr19:g.54071359_ 54121247del

Transcript NC_000019.9

DNA Change ~50kb deletion

Protein Change N/A

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