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UNC80 Antibody, FITC conjugated

Datasheet
Code CSB-PA854025LC01HU
Size US$166
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Product Details

Full Product Name
Rabbit anti-Homo sapiens (Human) UNC80 Polyclonal antibody
Uniprot No.
Q8N2C7
Target Names
UNC80
Alternative Names
C2orf21 antibody; Protein unc-80 homolog antibody; UNC 80 antibody; Unc 80 homolog (C. elegans) antibody; Unc80 antibody; UNC80_HUMAN antibody
Raised in
Rabbit
Species Reactivity
Human
Immunogen
Recombinant Human Protein unc-80 homolog protein (124-388AA)
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
Antibody 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.
Usage
For Research Use Only. Not for use in diagnostic or therapeutic procedures.

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UNC80 Antibodies

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Target Background

Function
Component of the NALCN sodium channel complex, required for channel regulation. This complex is a cation channel activated by neuropeptides substance P, neurotensin, and extracellular calcium that regulates neuronal excitability by controlling the sizes of NALCN-dependent sodium-leak current. UNC80 is essential for NALCN sensitivity to extracellular calcium.
Gene References into Functions
  1. UNC80 variant is associated with neurodevelopmental diseases. PMID: 30167850
  2. Biallelic UNC80 mutations caused infantile hypotonia with psychomotor retardation and characteristic facies 2 in two Chinese patients with variable phenotypes PMID: 29572195
  3. UNC80 bridges between UNC79 and the cation channel NALCN. PMID: 26545877
  4. Further supporting the UNC80 mutations as causative of these siblings' disorder, biallelic mutations in UNC80 have recently been described among individuals with an overlapping phenotype. This report expands the disease spectrum associated with UNC80 mutations PMID: 27513830
  5. findings demonstrate the fundamental significance of UNC80 and basal ionic conductance to human health PMID: 26708751
  6. UNC80 encodes a large protein that is necessary for the stability and function of NALCN and for bridging NALCN to UNC79 to form a functional complex PMID: 26708753
  7. UNC80 functions as a scaffold for Src kinases in NALCN channel function. PMID: 19535918

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Involvement in disease
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 (IHPRF2)
Subcellular Location
Membrane; Multi-pass membrane protein.
Protein Families
Unc-80 family
Tissue Specificity
Moderately expressed in fetal brain, spinal cord, skeletal muscle, thymus, spleen, fetal liver, small intestine, colon, kidney and uterus. Highly expressed in adrenal gland, prostate and testis, as well as in brain and cerebellum.
Database Links

HGNC: 26582

OMIM: 612636

KEGG: hsa:285175

STRING: 9606.ENSP00000391088

UniGene: Hs.396201

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