IFT52 Antibody

說(shuō)明書(shū)

產(chǎn)品詳情

Uniprot No.：

Q9Y366
基因名：

IFT52
別名：

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

Rabbit
反應(yīng)種屬：

Human,Mouse,Rat
免疫原：

Human IFT52
免疫原種屬：

Homo sapiens (Human)
抗體亞型：

IgG
純化方式：

Antigen Affinity purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
產(chǎn)品提供形式：

Liquid
應(yīng)用范圍：

ELISA,WB,IF
Protocols：

ELISA Protocol
Western Blotting (WB) Protocol
Immunofluorescence (IF) Protocol
儲(chǔ)存條件：

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

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.
基因功能參考文獻(xiàn)：
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
相關(guān)疾病：

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

Cell projection, cilium.
數(shù)據(jù)庫(kù)鏈接：

HGNC: 15901

OMIM: 617094

KEGG: hsa:51098

STRING: 9606.ENSP00000362121

UniGene: Hs.444332