PARD6B

Date of Report

Feb 04, 2025

Full Name

Par-6 Family Cell Polarity Regulator Beta

Location
Chromosome 20 (20q13.13)
PARD6B-20q13.13.png

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

Interested in learning more about this gene or sharing what you know? Contact us!

Top