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Rabbit Anti-SLC29A3/Gold Conjugated antibody (bs-21250R-Gold)
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说 明 书: 100ul(10nm  15nm  35nm
100ul/2980.00元
大包装/询价
产品编号 bs-21250R-Gold
英文名称 Anti-SLC29A3/Gold
中文名称 胶体金标记的溶质载体转运蛋白家族29成员3抗体
别    名 Equilibrative nucleoside transporter 3; hENT3; Solute carrier family 29 member 3; ENT3.  
规格价格 100ul/2980元 购买        大包装/询价
说 明 书 100ul(10nm  15nm  35nm
研究领域 细胞生物  信号转导  转运蛋白  
抗体来源 Rabbit
克隆类型 Polyclonal
交叉反应 (predicted: Human, )
产品应用 IEM=1:20-200 ICA=1:20-200 ChIP=1:20-200 
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量 52kDa
性    状 Lyophilized or Liquid
浓    度 0.4mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human SLC29A3
亚    型 IgG
纯化方法 affinity purified by Protein A
储 存 液 0.02M TBS(pH8.2) with 1% BSA, 0.03% Proclin300.
保存条件 Store at 2-8 ºC for 3-6 months. Avoid repeated freeze/thaw cycles.
产品介绍 background:
This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism. A related disorder, PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus), has also been associated with mutations at this locus. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2010]

Function:
Mediates both influx and efflux of nucleosides across the membrane (equilibrative transporter). Mediates transport of adenine, adenosine and uridine, as well as several nucleoside analog drugs, such as anticancer and antiviral agents, including cladribine, cordycepin, tubercidin and AZT. Does not transport hypoxanthine.

Tissue Specificity:
Widely expressed in both adult and fetal tissues. Highest levels in placenta, uterus, ovary, spleen, lymph node and bone marrow. Lowest levels in brain and heart.

DISEASE:
The disease is caused by mutations affecting the gene represented in this entry.
Disease description:A syndrome characterized by the combination of features from 2 or more of four histiocytic disorders, originally thought to be distinct: Faisalabad histiocytosis (FHC), sinus histiocytosis with massive lymphadenopathy (SHML), H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome (PHID). FHC features include joint deformities, sensorineural hearing loss, and subsequent development of generalized lymphadenopathy and swellings in the eyelids that contain histiocytes. SHML causes lymph node enlargement in children frequently accompanied by fever, leukocytosis, elevated erythrocyte sedimentation rate, and polyclonal hypergammaglobulinemia. H syndrome is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism; hearing loss is found in about half of patients. PHID is characterized by predominantly antibody-negative insulin-dependent diabetes mellitus associated with pigmented hypertrichosis and variable occurrence of other features of H syndrome.

Similarity:
Belongs to the SLC29A/ENT transporter (TC 2.A.57) family.

Database links:

Entrez Gene: 55315 Human

Entrez Gene: 71279 Mouse

Entrez Gene: 353307 Rat

Omim: 612373 Human

SwissProt: Q9BZD2 Human

SwissProt: Q99P65 Mouse

SwissProt: Q80WK7 Rat

Unigene: 438419 Human

Unigene: 284462 Mouse

Unigene: 15870 Rat



Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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