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

Gene: SNX5

Alternate names for this Gene: -

Gene Summary: This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein functions in endosomal sorting, the phosphoinositide-signaling pathway, and macropinocytosis. This gene may play a role in the tumorigenesis of papillary thyroid carcinoma. Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 20

Location in Chromosome : 20p11.23

Description of this Gene: sorting nexin 5

Type of Gene: protein-coding

rs1555789140 in OVOL2;MGME1;SNX5 gene and Cerebellar atrophy PMID 28711739 2017 Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia.

rs1555789140 in OVOL2;MGME1;SNX5 gene and MITOCHONDRIAL DNA DEPLETION SYNDROME 11 PMID 28711739 2017 Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia.

rs1555789140 in OVOL2;MGME1;SNX5 gene and Microcephaly (physical finding) PMID 28711739 2017 Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia.

rs1555789140 in OVOL2;MGME1;SNX5 gene and Progressive cerebellar ataxia PMID 28711739 2017 Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia.