EFEMP1,原纤维蛋白样蛋白DHRD抗体

产品编号HZ-14516R
英文名称EFEMP1
中文名称原纤维蛋白样蛋白DHRD抗体
别 名DHRD; Doyne honeycomb retinal degeneration; DRAD; EFEMP 1; EFEMP1; EGF containing fibulin like extracellular matrix protein 1; EGF containing fibulin like extracellular matrix protein 1 precursor; EGF-containing fibulin-like extracellular matrix protein 1; Epidermal growth factor containing fibulin like extracellular matrix protein 1; Extracellular protein S1 5; Extracellular protein S1-5; FBLN 3; FBLN3; FBLN3_HUMAN; FBNL; FIBL 3; FIBL-3; FIBL3; Fibrillin like; Fibrillin like protein; Fibrillin-like protein; FIBULIN 3; Fibulin-3; Fibulin3; FLJ35535; Heat shock 70 KD protein 1; MGC111353; MLVT; MTLV; S1 5; T16 protein.
说 明 书0.1ml 0.2ml
研究领域肿瘤 神经生物学 信号转导 细胞外基质
抗体来源Rabbit
克隆类型Polyclonal
交叉反应 Human, Mouse, Rat,
EFEMP1,原纤维蛋白样蛋白DHRD抗体产品应用WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复）
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量53kDa
细胞定位细胞浆
性 状Lyophilized or Liquid
浓 度1mg/1ml
免 疫 原KLH conjugated synthetic peptide derived from human EFEMP1
亚 型IgG
纯化方法affinity purified by Protein A
储 存 液0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存条件Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.
EFEMP1,原纤维蛋白样蛋白DHRD抗体PubMedPubMed
产品介绍background:
This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009]

Function:
Binds EGFR, the EGF receptor, inducing EGFR autophosphorylation and the activation of downstream signaling pathways. May play a role in cell adhesion and migration. May function as a negative regulator of chondrocyte differentiation. In the olfactory epithelium, it may regulate glial cell migration, differentiation and the ability of glial cells to support neuronal neurite outgrowth.

Subcellular Location:
Secreted > extracellular space. Secreted > extracellular space > extracellular matrix. Localizes to the lamina propria underneath the olfactory epithelium.

Tissue Specificity:
In the eye, associated with photoreceptor outer and inner segment regions, the nerve fiber layer, outer nuclear layer and inner and outer plexiform layers of the retina.

EFEMP1,原纤维蛋白样蛋白DHRD抗体DISEASE:
Defects in EFEMP1 are a cause of Doyne honeycomb retinal dystrophy (DHRD) [MIM:126600]; also known as malattia leventinese (MLVT) (ML). DHRD is an autosomal dominant disease characterized by yellow-white deposits known as drusen that accumulate beneath the retinal pigment epithelium.

Similarity:
Belongs to the fibulin family.
Contains 6 EGF-like domains.

Gene ID:
2202

Database links:
Entrez Gene: 2202 Human
Entrez Gene: 216616 Mouse
Entrez Gene: 305604 Rat
Omim: 601548 Human
SwissProt: Q12805 Human
SwissProt: Q8BPB5 Mouse
SwissProt: O35568 Rat
Unigene: 76224 Human
Unigene: 44176 Mouse
Unigene: 163265 Rat

EFEMP1,原纤维蛋白样蛋白DHRD抗体Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.