EXPH5 Antibody, Biotin conjugated

Code CSB-PA843342LD01HU
Size US$166
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Product Details

Full Product Name
Rabbit anti-Homo sapiens (Human) EXPH5 Polyclonal antibody
Uniprot No.
Target Names
EXPH5
Alternative Names
EXPH5 antibody; KIAA0624 antibody; SLAC2BExophilin-5 antibody; Synaptotagmin-like protein homolog lacking C2 domains b antibody; SlaC2-b antibody; Slp homolog lacking C2 domains b antibody
Raised in
Rabbit
Species Reactivity
Human
Immunogen
Recombinant Human Exophilin-5 protein (1235-1490AA)
Immunogen Species
Homo sapiens (Human)
Conjugate
Biotin
Clonality
Polyclonal
Isotype
IgG
Purification Method
>95%, Protein G purified
Concentration
It differs from different batches. Please contact us to confirm it.
Buffer
Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
Form
Liquid
Tested Applications
ELISA
Protocols
Troubleshooting and FAQs
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

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Target Background

Function
May act as Rab effector protein and play a role in vesicle trafficking.
Gene References into Functions
  1. Mutations in EXPH5 protein, human have been implicated in the physiopathology of Epidermolysis bullosa simplex. PMID: 27384765
  2. 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. PMID: 26211931
  3. Here, we report the second family with two EXPH5 mutations in epidermolysis bullosa simplex. PMID: 24005056
  4. 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. PMID: 23176819
  5. 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). PMID: 11773082

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Involvement in disease
Epidermolysis bullosa, non-specific, autosomal recessive (EBNS)
Tissue Specificity
Expressed in keratinocytes.
Database Links

HGNC: 30578

OMIM: 612878

KEGG: hsa:23086

STRING: 9606.ENSP00000265843

UniGene: Hs.28540

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