RAB40AL Antibody, Biotin conjugated

產品詳情

產品名稱：

Rabbit anti-Homo sapiens (Human) RAB40AL Polyclonal antibody
Uniprot No.：

P0C0E4
基因名：

RAB40AL
別名：

RAB40AL antibody; RLGP antibody; Ras-related protein Rab-40A-like antibody; Ras-like GTPase antibody
宿主：

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human Ras-related protein Rab-40A-like protein (1-88AA)
免疫原種屬：

Homo sapiens (Human)
標記方式：

Biotin
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.

功能：

May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.
基因功能參考文獻：
1. Our findings are inconsistent with a causative effect of RAB40AL p.D59G on cognitive impairment combined with severe to profound bilateral hearing loss but indicate that p.D59G is a common genetic variation. PMID: 25370018
2. Data question the role of RAB40AL mutation as a disease-causing change and the involvement of RAB40AL in Martin-Probst syndrome. PMID: 25044830
3. We herein present an unrelated 20-year-old male with similar manifestations also with p.D59G in the RAB40AL gene, which supports the existence of this condition previously coined as Martin-Probst syndrome PMID: 24863632
4. This is the first study to show that mutation of RAB40AL is associated with a human disorder. PMID: 22581972
相關疾病：

Mental retardation, X-linked, syndromic, Martin-Probst type (MRXSMP)
亞細胞定位：

Membrane; Lipid-anchor; Cytoplasmic side. Cytoplasm. Mitochondrion.
蛋白家族：

Small GTPase superfamily, Rab family
組織特異性：

Expressed in brain, lung, heart, skeletal muscle, kidney and liver. Highest expression in brain. Expressed in fetal brain and kidney.
數據庫鏈接：

HGNC: 25410

OMIM: 300405

KEGG: hsa:282808

STRING: 9606.ENSP00000218249

UniGene: Hs.449517