IFT52 Antibody, FITC conjugated

产品详情

产品名称：

Rabbit anti-Homo sapiens (Human) IFT52 Polyclonal antibody
Uniprot No.：

Q9Y366
基因名：

IFT52
别名：

IFT52 antibody; C20orf9 antibody; NGD5 antibody; CGI-53 antibody; Intraflagellar transport protein 52 homolog antibody; Protein NGD5 homolog antibody
宿主：

Rabbit
反应种属：

Human
免疫原：

Recombinant Human Intraflagellar transport protein 52 homolog protein (325-434AA)
免疫原种属：

Homo sapiens (Human)
标记方式：

FITC
克隆类型：

Polyclonal
抗体亚型：

IgG
纯化方式：

>95%, Protein G purified
浓度：

It differs from different batches. Please contact us to confirm it.
保存缓冲液：

Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
产品提供形式：

Liquid
储存条件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
货期：

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
用途：

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

功能：

Involved in ciliogenesis as part of a complex involved in intraflagellar transport (IFT), the bi-directional movement of particles required for the assembly, maintenance and functioning of primary cilia. Required for the anterograde transport of IFT88.
基因功能参考文献：
1. The data identify a new locus for short-rib polydactyly syndromes (SRPS) and show that IFT52 mutations result in a ciliopathy with primary effects on the skeleton. PMID: 27466190
2. Whole-exome sequencing revealed a homozygous nonsense variant p.R142* in IFT52 encoding an IFT-B core complex protein as the probable cause of her condition. This is the first report of a human disease associated with IFT52 PMID: 26880018
相关疾病：

Short-rib thoracic dysplasia 16 with or without polydactyly (SRTD16)
亚细胞定位：

Cell projection, cilium.
数据库链接：

HGNC: 15901

OMIM: 617094

KEGG: hsa:51098

STRING: 9606.ENSP00000362121

UniGene: Hs.444332