Recombinant Human Protein O-mannosyl-transferase 2 (POMT2), partial

中文名稱：

人POMT2重組蛋白
貨號：

CSB-YP892459HU
說明書：

MSDS Datasheet
規格：
來源：

Yeast
其他：

中文名稱：

人POMT2重組蛋白
貨號：

CSB-EP892459HU
說明書：

MSDS Datasheet
規格：
來源：

E.coli
其他：

中文名稱：

人POMT2重組蛋白
貨號：

CSB-EP892459HU-B
說明書：

MSDS Datasheet
規格：
來源：

E.coli
共軛：

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.
其他：

中文名稱：

人POMT2重組蛋白
貨號：

CSB-BP892459HU
說明書：

MSDS Datasheet
規格：
來源：

Baculovirus
其他：

中文名稱：

人POMT2重組蛋白
貨號：

CSB-MP892459HU
說明書：

MSDS Datasheet
規格：
來源：

Mammalian cell
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

純度：

>85% (SDS-PAGE)
基因名：

POMT2
Uniprot No.：

Q9UKY4
別名：

A830009D15Rik; AW046274; DKFZp686G10254; Dolichyl phosphate mannose protein mannosyltransferase 2 ; Dolichyl-phosphate-mannose--protein mannosyltransferase 2; FLJ22309; LGMD2N; MDDGA2; MDDGB2; MDDGC2; POMT 2; Pomt2; POMT2_HUMAN; Protein O mannosyltransferase 2; Protein O mannosyltransferase; Protein O-mannosyl-transferase 2; Putative protein O mannosyltransferase; rCG_20643
種屬：

Homo sapiens (Human)
蛋白長度：

Partial
蛋白標簽：

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.
產品提供形式：

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.
復溶：

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.
儲存條件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保質期：

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.
貨期：

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.
注意事項：

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.

產品評價

靶點詳情

功能：

Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient. Essentially dedicated to O-mannosylation of alpha-DAG1 and few other proteins but not of cadherins and protocaherins.
基因功能參考文獻：
1. Muscle biopsy revealed absent alpha-dystroglycan on immunostaining and genetic testing confirmed the diagnosis with two previously described POMT2 mutations. This is the first reported case of WWS syndrome associated with noncompaction cardiomyopathy PMID: 28980384
2. POMT2 missense mutation is associated with Cystic kidneys in fetal Walker-Warburg syndrome. PMID: 28815891
3. Our report is the first to document an association between POMT2 mutations and aortopathy with concomitant depressed left ventricular systolic function. PMID: 24002165
4. molecular cloning and characterization PMID: 12460945
5. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome [case reports] PMID: 15894594
6. Our results broaden the clinical spectrum associated with POMT2 mutations, which should be considered in patients with CMD associated with microcephaly, and severe mental retardation with or without ocular involvement. PMID: 17634419
7. identified a POMT2 homozygous missense mutation in a girl with a mild limb-girdle muscular dystrophy (LGMD) phenotype PMID: 17923109
8. testis POMT2 is highly conserved among mammals, including humans, suggesting a crucial function that is distinct from somatic POMT2 PMID: 18490429
9. In pomt2 mutation in CMD patient(three out of 5) show cerebellar hypoplasia. PMID: 18513969
10. Our results indicate that mutations in POMT2 can cause a wide spectrum of clinical phenotypes as observed in other genes associated with alpha-dystroglycanopathy. PMID: 18804929
11. POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation are reported. PMID: 19138766
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相關疾病：

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2); Muscular dystrophy-dystroglycanopathy congenital with mental retardation B2 (MDDGB2); Muscular dystrophy-dystroglycanopathy limb-girdle C2 (MDDGC2)
亞細胞定位：

Endoplasmic reticulum membrane; Multi-pass membrane protein.
蛋白家族：

Glycosyltransferase 39 family
組織特異性：

Highly expressed in testis; detected at low levels in most tissues.
數據庫鏈接：

HGNC: 19743

OMIM: 607439

KEGG: hsa:29954

STRING: 9606.ENSP00000261534

UniGene: Hs.132989