Ras-related protein Rab-27A is a
protein that in humans is encoded by the RAB27Agene.[5][6]
Function
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 and
hemophagocytic lymphohistiocytosis. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified.[6]
Tolmachova T, Ramalho JS, Anant JS, Schultz RA, Huxley CM, Seabra MC (1999). "Cloning, mapping and characterization of the human RAB27A gene". Gene. 239 (1): 109–16.
doi:
10.1016/S0378-1119(99)00371-6.
PMID10571040.
Ménasché G, Pastural E, Feldmann J, Certain S, Ersoy F, Dupuis S, Wulffraat N, Bianchi D, Fischer A, Le Deist F, de Saint Basile G (2000). "Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome". Nat. Genet. 25 (2): 173–6.
doi:
10.1038/76024.
PMID10835631.
S2CID7698624.
Wistow G, Bernstein SL, Wyatt MK, Fariss RN, Behal A, Touchman JW, Bouffard G, Smith D, Peterson K (2002). "Expressed sequence tag analysis of human RPE/choroid for the NEIBank Project: over 6000 non-redundant transcripts, novel genes and splice variants". Mol. Vis. 8: 205–20.
PMID12107410.
Ras-related protein Rab-27A is a
protein that in humans is encoded by the RAB27Agene.[5][6]
Function
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 and
hemophagocytic lymphohistiocytosis. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified.[6]
Tolmachova T, Ramalho JS, Anant JS, Schultz RA, Huxley CM, Seabra MC (1999). "Cloning, mapping and characterization of the human RAB27A gene". Gene. 239 (1): 109–16.
doi:
10.1016/S0378-1119(99)00371-6.
PMID10571040.
Ménasché G, Pastural E, Feldmann J, Certain S, Ersoy F, Dupuis S, Wulffraat N, Bianchi D, Fischer A, Le Deist F, de Saint Basile G (2000). "Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome". Nat. Genet. 25 (2): 173–6.
doi:
10.1038/76024.
PMID10835631.
S2CID7698624.
Wistow G, Bernstein SL, Wyatt MK, Fariss RN, Behal A, Touchman JW, Bouffard G, Smith D, Peterson K (2002). "Expressed sequence tag analysis of human RPE/choroid for the NEIBank Project: over 6000 non-redundant transcripts, novel genes and splice variants". Mol. Vis. 8: 205–20.
PMID12107410.