Gene: GIGYF2

Alternate names for this Gene: GYF2|PARK11|PERQ2|PERQ3|TNRC15

Gene Summary: This gene contains CAG trinucleotide repeats and encodes a protein containing several stretches of polyglutamine residues. The encoded protein may be involved in the regulation of tyrosine kinase receptor signaling. This gene is located in a chromosomal region that was genetically linked to Parkinson disease type 11, and mutations in this gene were thought to be causative for this disease. However, more recent studies in different populations have been unable to replicate this association. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 2

Location in Chromosome : 2q37.1

Description of this Gene: GRB10 interacting GYF protein 2

Type of Gene: protein-coding

Gene: KCNJ13

Alternate names for this Gene: KIR1.4|KIR7.1|LCA16|SVD

Gene Summary: This gene encodes a member of the inwardly rectifying potassium channel family of proteins. Members of this family form ion channel pores that allow potassium ions to pass into a cell. The encoded protein belongs to a subfamily of low signal channel conductance proteins that have a low dependence on potassium concentration. Mutations in this gene are associated with snowflake vitreoretinal degeneration. Alternate splicing results in multiple transcript variants.

Gene is located in Chromosome: 2

Location in Chromosome : 2q37.1

Description of this Gene: potassium inwardly rectifying channel subfamily J member 13

Type of Gene: protein-coding