产品货号 :  mlR11554

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.  

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,

产品应用 :  WB=1:500-2000 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 :  58kDa

细胞定位 :  细胞浆 细胞膜

性    状 :  Lyophilized or Liquid

浓    度 :  1mg/ml

免 疫 原 :  KLH conjugated synthetic peptide derived from human Hyccin:1-100/521

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  :  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.

SWISS:

Q9BYI3

Gene ID:

84668

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