CEP41 Antibody

說明書

產品詳情

Uniprot No.：

Q9BYV8
基因名：

CEP41
別名：

centrosomal protein 41 kDa antibody; Centrosomal protein of 41 kDa antibody; CEP 41 antibody; Cep41 antibody; CEP41_HUMAN antibody; testis specific 14 antibody; testis specific gene A14 antibody; Testis specific gene A14 protein antibody; testis specific protein A14 antibody; Testis-specific gene A14 protein antibody
宿主：

Rabbit
反應種屬：

Human
免疫原：

Synthesized peptide derived from the Internal region of Human CEP41.
免疫原種屬：

Homo sapiens (Human)
標記方式：

Non-conjugated
抗體亞型：

IgG
純化方式：

The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
濃度：

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

Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
產品提供形式：

Liquid
應用范圍：

IHC, ELISA

推薦稀釋比：

Application	Recommended Dilution
IHC	1:100-1:300
ELISA	1:40000

Protocols：

Immunohistochemistry (IHC) Protocol
ELISA Protocol
儲存條件：

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：

Required during ciliogenesis for tubulin glutamylation in cilium. Probably acts by participating in the transport of TTLL6, a tubulin polyglutamylase, between the basal body and the cilium.
基因功能參考文獻：
1. In cortices, the MEST promoter was hemimethylated, as expected for a differentially methylated imprinting control region, whereas the COPG2 and TSGA14 promoters were completely demethylated, typical for transcriptionally active non-imprinted genes. PMID: 22456293
2. The data identified CEP41 mutations as a cause of Joubert syndrome and implicated tubulin post-translational modification in the pathogenesis of human ciliary dysfunction. PMID: 22246503
3. Three rare potentially pathogenic variants were identified in the TSGA14 gene, which encodes a centrosomal protein. PMID: 21438139
相關疾病：

Joubert syndrome 15 (JBTS15)
亞細胞定位：

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body. Note=Localizes mainly to the cilium basal body and in primary cilia.
蛋白家族：

CEP41 family
組織特異性：

[Isoform 1]: Expressed in testis and fetal tissues.; [Isoform 3]: Expressed in testis and fetal tissues.
數據庫鏈接：

HGNC: 12370

OMIM: 610523

KEGG: hsa:95681

STRING: 9606.ENSP00000223208

UniGene: Hs.368315

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