Recombinant Human Hyccin (FAM126A)

Code CSB-YP866318HU
MSDS
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Source Yeast
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Code CSB-EP866318HU
MSDS
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Source E.coli
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Code CSB-EP866318HU-B
MSDS
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Source E.coli
Conjugate Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
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Code CSB-BP866318HU
MSDS
Size Pls inquire
Source Baculovirus
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Code CSB-MP866318HU
MSDS
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Source Mammalian cell
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Product Details

Purity
≥85% (SDS-PAGE)
Target Names
FAM126A
Uniprot No.
Alternative Names
Down regulated by Ctnnb1 a; Down regulated by CTNNB1 protein A; Down-regulated by CTNNB1 protein A; DRCTNNB1A; FAM126A; Family with sequence similarity 126 member A; HCC; HLD5; HYCC1; HYCCI_HUMAN; Hyccin; Protein FAM126A
Species
Homo sapiens (Human)
Expression Region
1-521
Target Protein Sequence
MFTSEKGVVE EWLSEFKTLP ETSLPNYATN LKDKSSLVSS LYKVIQEPQS ELLEPVCHQL FEFYRSGEEQ LLQFTLQFLP ELIWCYLAVS ASRNVHSSGC IEALLLGVYN LEIVDKQGHT KVLSFTIPSL SKPSVYHEPS SIGSMALTES ALSQHGLSKV VYSGPHPQRE MLTAQNRFEV LTFLLLCYNA ALTYMPSVSL QSLCQICSRI CVCGYPRQHV RKYKGISSRI PVSSGFMVQM LTGIYFAFYN GEWDLAQKAL DDIIYRAQLE LYPEPLLVAN AIKASLPHGP MKSNKEGTRC IQVEITPTSS RISRNAVTSM SIRGHRWKRH GNTELTGQEE LMEISEVDEG FYSRAASSTS QSGLSNSSHN CSNKPSIGKN HRRSGGSKTG GKEKETTGES CKDHFARKQT QRAQSENLEL LSLKRLTLTT SQSLPKPSSH GLAKTAATVF SKSFEQVSGV TVPHNPSSAV GCGAGTDANR FSACSLQEEK LIYVSERTEL PMKHQSGQQR PPSISITLST D
Protein Length
full length protein
Tag Info
Tag type will be determined during the manufacturing process.
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.
Form
Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
Buffer before Lyophilization
Tris/PBS-based buffer, 6% Trehalose.
Reconstitution
We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting and FAQs
Storage Condition
Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
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.
Lead Time
Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
Notes
Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet
Please contact us to get it.

Customer Reviews and Q&A

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Target Background

Function
Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane. The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis. FAM126A plays a key role in oligodendrocytes formation, a cell type with expanded plasma membrane that requires generation of PtdIns(4)P. Its role in oligodendrocytes formation probably explains its importance in myelination of the central and peripheral nervous system. May also have a role in the beta-catenin/Lef signaling pathway (Probable).
Gene References into Functions
  1. point to a role for FAM126A in supporting myelination, an important process in development and also following acute exacerbations in multiple sclerosis PMID: 26571211
  2. A disease-associated FAM126A missense mutation causes protein accumulation in subcellular compartments. PMID: 24417797
  3. Identified two novel FAM126A mutations in three hypomyelination and congenital cataract affected members of two unrelated families. PMID: 23998934
  4. Two novel mutations in the FAM126A gene were identified in 2 unrelated families with Hypomyelination and congenital cataract PMID: 22749724
  5. Molecular analysis of 9 additional cases in this review depicts 3 novel mutations of FAM126A with clinical variability ranging from severe early-onset neurologic impairment to a milder phenotype PMID: 21911699
  6. A large intragenic deletion of DRCTNNB1A does not lead to congenital cataract in all of the patients in an afflicted family. PMID: 17928815
  7. Mutation of this gene results in defective myelination of both the central and peripheral nervous system. PMID: 16951682

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Involvement in disease
Leukodystrophy, hypomyelinating, 5 (HLD5)
Subcellular Location
Cytoplasm, cytosol. Cell membrane.
Protein Families
FAM126 family
Tissue Specificity
Widely expressed. Highest levels in heart, brain, placenta, spleen and testis.
Database Links

HGNC: 24587

OMIM: 610531

KEGG: hsa:84668

STRING: 9606.ENSP00000403396

UniGene: Hs.85603

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No. 269, Shendun 5th Road, Donghu Hi-Tech Development Area, Hubei Province, 430206, P.R.China
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