ESX1 Chromosome X
ESX homeobox 1
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What This Gene Does
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]
Gene Info
Gene Group
PRD class homeoboxes and pseudogenes
Locus Type
gene with protein product
Location
Xq22.2
Ensembl
ENSG00000123576
Associated Conditions (1)
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Key Variants
RS149394798
Conflicting classifications of pathogenicity
Health Risk
RS202022977
Conflicting classifications of pathogenicity
Health Risk
RS782410327
Conflicting classifications of pathogenicity
Health Risk
RS782108131
Likely pathogenic
Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS149394798 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS202022977 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS782410327 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS782108131 | Health Risk | Likely pathogenic | Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation |