ECEL1 Antibody, FITC conjugated

Code CSB-PA007373LC01HU
Size US$166
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Product Details

Full Product Name
Rabbit anti-Homo sapiens (Human) ECEL1 Polyclonal antibody
Uniprot No.
Target Names
ECEL1
Alternative Names
ECEL1; XCE; UNQ2431/PRO4991; Endothelin-converting enzyme-like 1; Xce protein
Raised in
Rabbit
Species Reactivity
Human
Immunogen
Recombinant Human Endothelin-converting enzyme-like 1 protein (425-775AA)
Immunogen Species
Homo sapiens (Human)
Conjugate
FITC
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
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 contribute to the degradation of peptide hormones and be involved in the inactivation of neuronal peptides.
Gene References into Functions
  1. Mutation of a conserved residue in ECEL1 is linked with fetal arthrogryposis multiplex congenita. PMID: 25708584
  2. Our clinical findings are consistent with recessive ECEL1 mutations causing variably penetrant orbital dysinnervation phenotypes (ptosis and/or complex strabismus with abnormal synkinesis) PMID: 25173900
  3. Three novel ECEL1 mutations have been identified in consanguineous pedigrees of Saudi Arabian origin presenting with distal arthrogryposis type 5D. PMID: 23829171
  4. A novel missense c.1819G>A mutation (G607S) in the ECEL1 gene has been identified in a consanguineous pedigree of Turkish origin presenting with congenital contracture syndromes. PMID: 23808592
  5. We described a new and homogenous phenotype of DA associated with ECEL1 that resulted in symptoms involving rather the peripheral than the central nervous system and suggesting a developmental dysfunction PMID: 23236030
  6. Mutations in ECEL1 cause distal arthrogryposis type 5D. PMID: 23261301
  7. Sp1 recruits ATF3, c-Jun, and STAT3 to obtain the requisite synergistic effect in neuronal injury through DINE neuronal injury-inducible gene PMID: 18192274

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Involvement in disease
Arthrogryposis, distal, 5D (DA5D)
Subcellular Location
Membrane; Single-pass type II membrane protein.
Protein Families
Peptidase M13 family
Tissue Specificity
Highly expressed in the CNS, in particular in putamen, spinal cord, medulla and subthalamic nucleus. A strong signal was also detected in uterine subepithelial cells and around renal blood vessels. Detected at lower levels in amygdala, caudate, thalamus,
Database Links

HGNC: 3147

OMIM: 605896

KEGG: hsa:9427

STRING: 9606.ENSP00000302051

UniGene: Hs.26880

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