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Recombinant Human Protein unc-80 homolog (UNC80), partial

Recombinant Human Protein unc-80 homolog (UNC80), partial

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MSDS	MSDS Datasheet
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Source
Conjugate
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Target Background

Product Details

Abbreviation

UNC80

Purity

>85% (SDS-PAGE)

Target Names

UNC80

Uniprot NO.

Q8N2C7

Alternative Names

C2orf21; Protein unc-80 homolog; UNC 80; Unc 80 homolog (C. elegans); Unc80; UNC80_HUMAN

Species

Homo sapiens (Human)

Source

Yeast

Protein Length

Partial

Tag Info

N-terminal His-tagged/Tag-Free
The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.

Storage Condition

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.

Shelf Life

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.

Notes

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

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Target Background

Function(From Uniprot)

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

UNC80 variant is associated with neurodevelopmental diseases. PMID:30167850
Biallelic UNC80 mutations caused infantile hypotonia with psychomotor retardation and characteristic facies 2 in two Chinese patients with variable phenotypes PMID:29572195
UNC80 bridges between UNC79 and the cation channel NALCN. PMID:26545877
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
findings demonstrate the fundamental significance of UNC80 and basal ionic conductance to human health PMID:26708751
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
UNC80 functions as a scaffold for Src kinases in NALCN channel function. PMID:19535918

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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

UNIGENE: Hs.396201

KEGG: hsa:285175

STRING: 9606.ENSP00000391088

OMIM: 612636

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