POMT2 Antibody

說明書

中文名稱：

POMT2兔多克隆抗體
貨號：

CSB-PA018367GA01HU
規格：

￥3,900
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

Uniprot No.：

Q9UKY4
基因名：

POMT2
別名：

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

Rabbit
反應種屬：

Human,Mouse,Rat
免疫原：

Human POMT2
免疫原種屬：

Homo sapiens (Human)
抗體亞型：

IgG
純化方式：

Antigen Affinity Purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
產品提供形式：

Liquid
應用范圍：

ELISA,IHC
Protocols：

ELISA Protocol
Immunohistochemistry (IHC) Protocol
儲存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期：

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.
用途：

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

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

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