May act as Rab effector protein and play a role in vesicle trafficking (By similarity).. 再加上，我们可以发Exophilin 5 试剂盒 (2)和数多这个蛋白质的别的产品。
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both mutations were homozygous and were predicted to result in the absence (EXPH5) or very low levels (COL17A1) of the corresponding protein products, with ultrastructural findings in the skin consistent with the presence of two subtypes, the simplex and the junctional forms, of the disease.
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 effector proteins.
Slac2-b/KIAA0624 contains an N-terminal Slp homology domain (SHD) (PMID: 11327731). The SHD of Slac2-b specifically and directly binds the GTP-bound form of Rab27A (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