RAB28

This gene encodes a member of the Rab subfamily of Ras-related small GTPases. The encoded protein may be involved in regulating intracellular trafficking. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 9 and X. [provided by RefSeq]

Full Name

RAB28, member RAS oncogene family

Biological Process

Biological Process intracellular protein transportManual Assertion Based On ExperimentIBA:GO_Central
Biological Process toxin transportIEA:Ensembl

Cellular Location

Cell membrane
Cytoplasm, cytoskeleton, cilium basal body
Expressed in the basal body and ciliary rootlet of the photoreceptors.

Involvement in disease

Cone-rod dystrophy 18 (CORD18):
A form of cone-rod dystrophy, an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.