Gene: RAB28
Alternate names for this Gene: CORD18
Gene Summary: 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.
Gene is located in Chromosome: 4
Location in Chromosome : 4p15.33
Description of this Gene: RAB28, member RAS oncogene family
Type of Gene: protein-coding
rs751163782 in
RAB28 gene and
CONE-ROD DYSTROPHY 18
PMID 25356532 2015 New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy.
PMID 23746546 2013 Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy.
rs751163782 in
RAB28 gene and
Cone Dystrophy
PMID 25356532 2015 New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy.
PMID 23746546 2013 Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy.
rs751163782 in
RAB28 gene and
Electroretinogram abnormal
PMID 23746546 2013 Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy.
PMID 25356532 2015 New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy.
rs751163782 in
RAB28 gene and
Macular dystrophy
PMID 23746546 2013 Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy.
PMID 25356532 2015 New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy.
rs751163782 in
RAB28 gene and
Pallor of optic disc
PMID 25356532 2015 New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy.
PMID 23746546 2013 Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy.