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FAM126A Rabbit pAb (bs-11554R)  
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50ul/1180.00元
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產品編號 bs-11554R
英文名稱 FAM126A Rabbit pAb
中文名稱 髓鞘缺陷相關蛋白抗體
別    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.  
Specific References  (1)     |     bs-11554R has been referenced in 1 publications.
[IF=11.6] Xiuxing Jiang. et al. Targeting PI4KA sensitizes refractory leukemia to chemotherapy by modulating the ERK/AMPK/OXPHOS axis.. THERANOSTICS. 2022 Oct;12(16):6972-6988  WB ;  Human.  
研究領域 細胞生物  發育生物學  神經生物學  信號轉導  
抗體來源 Rabbit
克隆類型 Polyclonal
克 隆 號
交叉反應 Human,Mouse (predicted: Rat,Rabbit,Pig,Dog,Horse)
產品應用 WB=1:500-2000
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
理論分子量 58 kDa
檢測分子量
細胞定位 細胞漿 細胞膜 
性    狀 Liquid
濃    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human FAM126A: 1-100/521 
亞    型 IgG
純化方法 affinity purified by Protein A
緩 沖 液 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.
保存條件 Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles.
注意事項 This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed PubMed
產品介紹 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

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



產品圖片
Sample: Heart (Mouse) Lysate at 40 ug Primary: Anti-FAM126A (bs-11554R) at 1/300 dilution Secondary: IRDye800CW Goat Anti-Rabbit IgG at 1/20000 dilution Predicted band size: 58 kD Observed band size: 58 kD
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