EN1 Chromosome 2
Engrailed homeobox 1
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What This Gene Does
Homeobox-containing genes are thought to have a role in controlling development. In Drosophila, the 'engrailed' (en) gene plays an important role during development in segmentation, where it is required for the formation of posterior compartments. Different mutations in the mouse homologs, En1 and En2, produced different developmental defects that frequently are lethal. The human engrailed homologs 1 and 2 encode homeodomain-containing proteins and have been implicated in the control of pattern formation during development of the central nervous system. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
NKL subclass homeoboxes and pseudogenes
Locus Type
gene with protein product
Location
2q14.2
Ensembl
ENSG00000163064
Associated Conditions (3)
EN1 syndrome
ENDOVE syndrome
limb-brain type
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1678284190 | Health Risk | Pathogenic | EN1 syndrome, ENDOVE syndrome, limb-brain type |