POMK Antibody, HRP conjugated

說明書

中文名稱：

POMK兔多克隆抗體, HRP偶聯
貨號：

CSB-PA863985LB01HU
規格：

￥880
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

產品名稱：

Rabbit anti-Homo sapiens (Human) POMK Polyclonal antibody
Uniprot No.：

Q9H5K3
基因名：

POMK
別名：

FLJ23356 antibody; MDDGA12 antibody; POMK antibody; Probable inactive protein kinase-like protein SgK196 antibody; Protein kinase like protein SgK196 antibody; Protein kinase-like protein SgK196 antibody; Protein O-mannose kinase antibody; SG196_HUMAN antibody; SGK196 antibody; Sugen kinase 196 antibody
宿主：

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human Protein O-mannose kinase protein (44-350AA)
免疫原種屬：

Homo sapiens (Human)
標記方式：

HRP
克隆類型：

Polyclonal
抗體亞型：

IgG
純化方式：

>95%, Protein G purified
濃度：

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

Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
產品提供形式：

Liquid
應用范圍：

ELISA
Protocols：

ELISA 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：

Protein O-mannose kinase that specifically mediates phosphorylation at the 6-position of an O-mannose of the trisaccharide (N-acetylgalactosamine (GalNAc)-beta-1,3-N-acetylglucosamine (GlcNAc)-beta-1,4-mannose) to generate phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-1,3-N-acetylglucosamine-beta-1,4-(phosphate-6-)mannose). Phosphorylated O-mannosyl trisaccharide is a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. Only shows kinase activity when the GalNAc-beta-3-GlcNAc-beta-terminus is linked to the 4-position of O-mannose, suggesting that this disaccharide serves as the substrate recognition motif.
基因功能參考文獻：
1. POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. PMID: 24925318
2. Homozygous truncating mutations in POMK lead to congenital muscular dystrophies with secondary merosin deficiency, hypomyelination and intellectual disability. PMID: 24556084
3. These findings suggest how mutations in GTDC2, B3GALNT2, and SGK196 disrupt dystroglycan receptor function and lead to congenital muscular dystrophy. PMID: 23929950
相關疾病：

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12 (MDDGA12); Muscular dystrophy-dystroglycanopathy limb-girdle C12 (MDDGC12)
亞細胞定位：

Endoplasmic reticulum membrane; Single-pass type II membrane protein.
蛋白家族：

Protein kinase superfamily, Ser/Thr protein kinase family, STKL subfamily
組織特異性：

Highest expression is observed in brain, skeletal muscle, kidney and heart in fetal and adult tissues.
數據庫鏈接：

HGNC: 26267

OMIM: 615247

KEGG: hsa:84197

STRING: 9606.ENSP00000331258

UniGene: Hs.491646

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