Gene Symbol | RAB27A |
Entrez Gene ID | 5873 |
Full Name | RAB27A, member RAS oncogene family |
Synonyms | GS2,HsT18676,RAB27,RAM |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. The protein is membrane-bound and may be involved in protein transport and small GTPase mediated signal transduction. Mutations in this gene are associated with Griscelli syndrome type 2. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Griscelli syndrome, type 2, 607624 (3) |