FAM126A,髓鞘缺陷相关蛋白抗体

产品编号HZ-11554R
英文名称FAM126A
中文名称髓鞘缺陷相关蛋白抗体
别 名Hyccin; Down regulated by Ctnnb1 a; Down regulated by CTNNB1 protein A; Down-regulated by CTNNB1 protein A; DRCTNNB1A; FAM126A; Family with sequence similarity 126 member A; HCC; HLD5; HYCC1; HYCCI_HUMAN antibody Hyccin; Protein FAM126A.
说 明 书0.1ml 0.2ml
研究领域细胞生物 发育生物学 神经生物学 信号转导
抗体来源Rabbit
克隆类型Polyclonal
交叉反应 Human, Mouse, Rat, Dog, Pig, Horse, Rabbit,
FAM126A,髓鞘缺陷相关蛋白抗体产品应用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58kDa
细胞定位细胞浆 细胞膜
性 状Lyophilized or Liquid
浓 度1mg/1ml
免 疫 原KLH conjugated synthetic peptide derived from human Hyccin (1-100aa)
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.
FAM126A,髓鞘缺陷相关蛋白抗体PubMedPubMed
产品介绍background:
Hyccin is a 521 amino acid cytoplasmic protein that is widely expressed with highest levels found in heart, brain, placenta, spleen and testis. Belonging to the FAM126 family, hyccin may play a role in the ∫-catenin/Lef signaling pathway. Hyccin is likely involved in the process of myelination of the central and peripheral nervous system. Defects in the gene encoding hyccin are the cause of leukodystrophy hypomyelinating type 5 (HLD5), which is characterized by congenital cataract, progressive neurologic impairment and diffuse myelin deficiency. Individuals affected by HLD5 experience progressive pyramidal and cerebellar dysfunction along with muscle weakness in the lower limbs. Hyccin exists as two alternatively spliced isoforms and is encoded by a gene located on human chromosome 7.

Function:
May have a role in the beta-catenin/Lef signaling pathway. May have a role in the process of myelination of the central and peripheral nervous system.

Subcellular Location:
Cytoplasm. Membrane. According to PubMed:10910037, it is mainly cytoplasmic while according to PubMed:16951682, it is a membrane protein.

Tissue Specificity:
Widely expressed. Highest levels in heart, brain, placenta, spleen and testis.

DISEASE:
Defects in FAM126A are the cause of leukodystrophy hypomyelinating type 5 (HLD5) [MIM:610532]. This disorder is characterized by congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency. Affected individuals experience progressive pyramidal and cerebellar dysfunction, muscle weakness and wasting prevailingly in the lower limbs. Mental deficiency ranges from mild to moderate.

Similarity:
Belongs to the FAM126 family.

Database links:
Entrez Gene: 84668 Human
Entrez Gene: 84652 Mouse
Omim: 610531 Human
SwissProt: Q9BYI3 Human
SwissProt: Q6P9N1 Mouse
Unigene: 85603 Human
Unigene: 304976 Mouse

FAM126A,髓鞘缺陷相关蛋白抗体Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. 

产品图片

Paraformaldehyde-fixed, paraffin embedded (rat heart); Antigen retrieval by boiling in sodium citrate buffer (pH6.0) for 15min; Block endogenous peroxidase by 3% hydrogen peroxide for 20 minutes; Blocking buffer (normal goat serum) at 37°C for 30min; Antibody incubation with (FAM126A) Polyclonal Antibody, Unconjugated (HZ-11554R) at 1:5000 overnight at 4°C, followed by a conjugated secondary (sp-0023) for 20 minutes and DAB staining.