ZFHX4

Date of Report

Jan 25, 2024

Full Name

zinc finger homeobox 4

Location
Chromosome 8 (8q21.13)
8q21.13-ideogram-e1711721093204.png

Function

ZFHX4 codes for a transcription factor with 4 homeodomains and 22 zinc fingers. ZFHX4 engages with CHD4, a protein involved in altering nucleosome structure and removing acetyl groups. ZFHX4 is predominantly found in the brain, hear, lung, and muscles and oversees the neural differentiation and mesenchymal cells (Sakata et al., 2000 & Chudnovsky et al., 2014).

Database Links

GeneCards: ZFHX4

NCBI Gene: 79776

OMIM: 606940

UniProtKB/Swiss-Prot: Q86UP3

Clinical Significance

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

Gene ZFHX4
Inheritance Pattern Autosomal dominant
Position (hg19) chr8:g.77768284_ 77768304del
Transcript NM_024721.4
DNA Change c.9127_9147del
Protein Change p.Asp3044_ Leu3050del
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