IFT172 Antibody, Biotin conjugated

产品详情

产品名称：

Rabbit anti-Homo sapiens (Human) IFT172 Polyclonal antibody
Uniprot No.：

Q9UG01
基因名：

IFT172
别名：

IF172_HUMAN antibody; ift172 antibody; Intraflagellar transport 172 homolog (Chlamydomonas) antibody; Intraflagellar transport protein 172 homolog antibody; Osm 1 antibody; Selective LIM binding factor homolog antibody; SLB antibody; Wim antibody; Wimple homolog antibody
宿主：

Rabbit
反应种属：

Human
免疫原：

Recombinant Human Intraflagellar transport protein 172 homolog protein (1368-1502AA)
免疫原种属：

Homo sapiens (Human)
标记方式：

Biotin
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
应用范围：

ELISA
Protocols：

ELISA Protocol
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：

Required for the maintenance and formation of cilia. Plays an indirect role in hedgehog (Hh) signaling, cilia being required for all activity of the hedgehog pathway.
基因功能参考文献：
1. This is the second report of IFT172 mutations in BBS patients validating IFT172 as the twentieth BBS gene (BBS20). PMID: 26763875
2. Findings identified mutations in IFT172 that lead to a recessive form of non-syndromic retinitis pigmentosa and Bardet-Biedl syndrome and suggest that the primary IFT172 mutations alone are not sufficient to explain the wide range of phenotypes. PMID: 25168386
3. We have identified defects in IFT172 as a cause of complex asphyxiating thoracic dystrophy and Mainzer-Saldino syndrome. PMID: 24140113
相关疾病：

Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10); Retinitis pigmentosa 71 (RP71)
亚细胞定位：

Cell projection, cilium. Note=Localized to the axoneme and around the base of the cilium.
蛋白家族：

IFT172 family
数据库链接：

HGNC: 30391

OMIM: 607386

KEGG: hsa:26160

STRING: 9606.ENSP00000260570

UniGene: Hs.127401