ZHX1

Chr 8

zinc fingers and homeoboxes 1

NCBI Gene: 11244 ENSG00000165156 UniProt: Q9UKY1 OMIM: 604764

ZHX1 encodes a nuclear transcriptional repressor containing zinc fingers and homeobox DNA-binding domains that forms homodimers and heterodimers with other ZHX family members and interacts with transcriptional machinery including DNMT3B. The gene is highly constrained against loss-of-function variants (pLI = 0.80, LOEUF = 0.38), suggesting intolerance to haploinsufficiency, but no specific disease associations have been established in the provided data.

OMIM ResearchSummary from RefSeq, UniProt

The members of the zinc fingers and homeoboxes gene family are nuclear homodimeric transcriptional repressors that interact with the A subunit of nuclear factor-Y (NF-YA) and contain two C2H2-type zinc fingers and five homeobox DNA-binding domains. This gene encodes member 1 of this gene family. In addition to forming homodimers, this protein heterodimerizes with members 2 and 3 of the zinc fingers and homeoboxes family. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream chromosome 8 open reading frame 76 (C8orf76) gene. [provided by RefSeq, Feb 2011]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.38

LOEUF

LOF

Mechanism· predicted