RAB27
RAB27A, member RAS oncogene family | |||||||
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Identifiers | |||||||
Symbol | RAB27A | ||||||
NCBI gene | 5873 | ||||||
HGNC | 9766 | ||||||
OMIM | 603868 | ||||||
RefSeq | NM_004580 | ||||||
UniProt | P51159 | ||||||
Other data | |||||||
Locus | Chr. 15q21 | ||||||
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RAB27B, member RAS oncogene family | |||||||
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Identifiers | |||||||
Symbol | RAB27B | ||||||
NCBI gene | 5874 | ||||||
HGNC | 9767 | ||||||
OMIM | 603869 | ||||||
RefSeq | NM_004163 | ||||||
UniProt | O00194 | ||||||
Other data | |||||||
Locus | Chr. 18q21.2 | ||||||
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Rab27is a member of theRabsubfamily ofGTPases.Rab27 is post translationally modified by the addition of twogeranylgeranyl groupson the two C-terminalcysteines.
Pathology
[edit]Mutations that prevent the expression of Rab27 ('knock out' mutations) cause the hypopigmentation and immunodeficiency disorder known as type IIGriscelli syndrome,while a decrease in Rab27 prenylation is thought to be involved inchoroideremia.
The symptoms of type IIGriscelli syndromehave shown that Rab27 is involved inmelanosometransport inmelanocytesand in cytotoxic killing activity in cytotoxic Tlymphoblasts.In melanocytes Rab27 binds the melanosome. The melanosome is transported along themicrotubule.Rab27 then recruitsSlac2AandmyosinVa, these enzymes are essential for the transfer of the melanosomes from the microtubules toactinfilaments. The melanosomes can now continue on their path towards the cell periphery. If either Rab27, Slac2A or myosin Va are absent then the melanosomes remain in the perinuclear region of the cell. This disruption in pigmentation results in the hypopigmentation seen in the silvery hair colour of patients withGriscelli syndrome.
External links
[edit]- RAB27A+protein,+humanat the U.S. National Library of MedicineMedical Subject Headings(MeSH)
- RAB27B+protein,+humanat the U.S. National Library of MedicineMedical Subject Headings(MeSH)