PARD6B

Date of Report

Feb 04, 2025

Full Name

Par-6 Family Cell Polarity Regulator Beta

Location
Chromosome 20 (20q13.13)
Location Image

Function

This gene encodes for a protein that plays a role in asymmetrical cell division and cell polarization processes [provided by RefSeq, Jul 2008].

Database Links

GeneCards: PARD6B

NCBI Gene: 84612

OMIM: 608975

UniProtKB/Swiss-Prot: Q9BYG5

Clinical Significance

A heterozygous de novo change in this gene was identified in a UDN participant.

Gene Inheritance Position (hg19) Transcript DNA Change Protein Change
PARD6B Autosomal dominant chr20:g.49366667dup NM_032521.3 c.761dup p.N254Kfs*17
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