Gene: C8orf74

Alternate names for this Gene: -

Gene Summary:

Gene is located in Chromosome: 8

Location in Chromosome : 8p23.1

Description of this Gene: chromosome 8 open reading frame 74

Type of Gene: protein-coding

Gene: RP1L1

Alternate names for this Gene: DCDC4B|OCMD|RP88

Gene Summary: This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, and two C-terminal large repetitive regions, both of which contain a high percentage of glutamine and glutamic acid residues. This protein is a retinal-specific protein. Its exact length varies among individuals due to the presence of a 16aa repeat in the first C-terminal repetitive region. The 16aa repeat is encoded by the highly polymorphic 48-bp repeat, and 1-6 copies of the 16aa repeat have been identified in normal individuals. The current reference sequence shown here has a single copy of the 16aa repeat. This protein and the RP1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Mutations in this gene cause occult macular dystrophy (OMD).

Gene is located in Chromosome: 8

Location in Chromosome : 8p23.1

Description of this Gene: RP1 like 1

Type of Gene: protein-coding