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May act as Rab effector protein and play a role in vesicle trafficking (By similarity).. Additionally we are shipping Exophilin 5 Kits (4) and many more products for this protein.
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Mutations in EXPH5 protein, human have been implicated in the physiopathology of Epidermolysis bullosa simplex.
The results identify a further EXPH5 pedigree suggest that mutations in EXPH5 should be considered as a possible candidate gene for recessive or sporadic cases of mild generalized EBS.
Here, we report the second family with two EXPH5 mutations in epidermolysis bullosa simplex.
our findings identify an unexpected role for Slac2-b in inherited skin fragility and expand the clinical spectrum of human disorders of GTPase (show RACGAP1 Antibodies) effector proteins.
Slac2-b/KIAA0624 contains an N-terminal Slp (show SEPT9 Antibodies) homology domain (SHD (show SHD Antibodies)) (PMID: 11327731). The SHD (show SHD Antibodies) of Slac2-b specifically and directly binds the GTP (show AK3 Antibodies)-bound form of Rab27A (show RAB27A Antibodies) (J. Biol. Chem. 277, (2002) 9212-9218; PMID: 11773082).
May act as Rab effector protein and play a role in vesicle trafficking (By similarity).
, slp homolog lacking C2 domains b
, synaptotagmin-like homologue lacking C2 domains b
, synaptotagmin-like protein homolog lacking C2 domains b
, exophilin 5
, synaptotagmin-like 2-like