ESX1

Chr XADAR

ESX homeobox 1

Also known as: ESX1L, ESXR1

NCBI Gene: 80712 ENSG00000123576 UniProt: Q8N693 OMIM: 600525

The ESX1 protein functions as a transcriptional repressor and cell cycle regulator that undergoes proteolytic cleavage to produce nuclear and cytoplasmic fragments involved in controlling cyclin degradation and gene expression. Mutations cause amelogenesis imperfecta type IV, trichodontoosseous syndrome, and metaphyseal anadysplasia 2, affecting dental enamel formation, hair and tooth development, and bone growth. Both autosomal dominant and autosomal recessive inheritance patterns are reported.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a dual-function 65 kDa protein that undergoes proteolytic cleavage to produce a 45 kDa N-terminal fragment with a paired-like homeodomain and a 20 kDa C-terminal fragment with a proline-rich domain. The C-terminal fragment localizes to the cytoplasm while the N-terminal fragment localizes exclusively to the nucleus. In contrast to human, the mouse homolog has a novel PN/PF motif in the C-terminus and is paternally imprinted in placental tissue. This gene likely plays a role in placental development and spermatogenesis. [provided by RefSeq, Jan 2010]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Amelogenesis imperfecta, type IVMIM #104510

Trichodontoosseous syndromeMIM #190320

Metaphyseal anadysplasia 2MIM #613073

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

0.75

LOEUF

Multiple*

Mechanism· predicted