Gene: OVOL2

Alternate names for this Gene: CHED|CHED1|CHED2|EUROIMAGE566589|PPCD1|ZNF339

Gene Summary: This gene encodes a member of the evolutionarily conserved ovo-like protein family. Mammalian members of this family contain a single zinc finger domain composed of a tetrad of C2H2 zinc fingers with variable N- and C-terminal extensions that contain intrinsically disordered domains. Members of this family are involved in epithelial development and differentiation. Knockout of this gene in mouse results in early embryonic lethality with phenotypes that include neurectoderm expansion, impaired vascularization, and heart anomalies. In humans, allelic variants of this gene have been associated with posterior polymorphous corneal dystrophy.

Gene is located in Chromosome: 20

Location in Chromosome : 20p11.23

Description of this Gene: ovo like zinc finger 2

Type of Gene: protein-coding

Gene: MGME1

Alternate names for this Gene: C20orf72|DDK1|MTDPS11|bA504H3.4

Gene Summary: The protein encoded by this gene is a nuclear-encoded mitochondrial protein necessary for the maintenance of mitochondrial genome synthesis. The encoded protein is a RecB-type exonuclease and primarily cleaves single-stranded DNA. Defects in this gene have been associated with mitochondrial DNA depletion syndrome-11. Three transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 20

Location in Chromosome : 20p11.23

Description of this Gene: mitochondrial genome maintenance exonuclease 1

Type of Gene: protein-coding