产品货号 : mlR18898
英文名称 : MFSD1
中文名称 : 平滑肌细胞相关蛋白4抗体
别 名 : FLJ14153; Major facilitator superfamily domain containing 1; Major facilitator superfamily domain-containing protein 1; MFSD1; MFSD1_HUMAN; SMAP 4; SMAP-4; SMAP4; Smooth muscle cell-associated protein 4; UG0581B09.
研究领域 : 肿瘤 细胞生物 细胞膜蛋白
抗体来源 : Rabbit
克隆类型 : Polyclonal
交叉反应 : Human, Mouse, Rat, Horse, Sheep,
产品应用 : ELISA=1:500-1000 IHC-P=1:400-800 IHC-F=1:400-800 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 : 51kDa
细胞定位 : 细胞膜
性 状 : Lyophilized or Liquid
浓 度 : 1mg/ml
免 疫 原 : KLH conjugated synthetic peptide derived from human MFSD1:391-465/465
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.
PubMed : PubMed
产品介绍 : MFSD1 is a 465 amino acid multi-pass membrane protein that exists as two isoforms as a result of alternative splicing events. A related protein, MFSD2, may play a role in placenta morphogenesis and may also be involved in adaptive thermogenesis. The gene encoding MFSD1 maps to human chromosome 3, which is made up of about 214 million bases encoding over 1,100 genes, including a chemokine receptor (CKR) gene cluster and a variety of human cancer-related gene loci. Marfan Syndrome, porphyria, von Hippel-Lindau syndrome, osteogenesis imperfecta and Charcot-Marie-Tooth Disease are a few of the numerous genetic diseases associated with chromosome 3.
Function:
May play a role in eye development.
Subcellular Location:
Membrane; Single-pass type II membrane protein
Tissue Specificity:
Specifically expressed in brain. Strongly expressed in medulla oblongata and to a lower extent in hippocampus and corpus callosum. Expressed in keratinocytes.
DISEASE:
Nanophthalmos 2 (NNO2) [MIM:609549]: Rare autosomal recessive disorder of eye development characterized by extreme hyperopia and small functional eyes. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8
Microphthalmia, isolated, 5 (MCOP5) [MIM:611040]: A disorder characterized by posterior microphthalmia, retinitis pigmentosa, foveoschisis and optic disk drusen. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present.
Note: The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Contains 2 CUB domains.
Contains 1 FZ (frizzled) domain.
Contains 2 LDL-receptor class A domains.
SWISS:
Q9H3U5
Gene ID:
64747
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.