TMEM67 Antibody, HRP conjugated

說明書

中文名稱：

TMEM67兔多克隆抗體, HRP偶聯
貨號：

CSB-PA689243LB01HU
規格：

￥880
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

產品名稱：

Rabbit anti-Homo sapiens (Human) TMEM67 Polyclonal antibody
Uniprot No.：

Q5HYA8
基因名：

TMEM67
別名：

TMEM67 antibody; MKS3 antibody; Meckelin antibody; Meckel syndrome type 3 protein antibody; Transmembrane protein 67 antibody
宿主：

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human Meckelin protein (241-500AA)
免疫原種屬：

Homo sapiens (Human)
標記方式：

HRP
克隆類型：

Polyclonal
抗體亞型：

IgG
純化方式：

>95%, Protein G purified
濃度：

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

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

Liquid
應用范圍：

ELISA
Protocols：

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.

產品評價

靶點詳情

功能：

Required for ciliary structure and function. Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Involved in the regulation of cilia length and appropriate number through the control of centrosome duplication. Required for cell branching morphology. Essential for endoplasmic reticulum-associated degradation (ERAD) of surfactant protein C (SFTPC).
基因功能參考文獻：
1. The authors results suggest that Asn242Ser in TMEM67 is a founder mutation in the Iranian population, which might explain a significant proportion of JS cases from eastern Iran. PMID: 28719906
2. Low expression of TMEM67 is associated with lymph node metastasis in urothelial carcinoma of the bladder. PMID: 28161324
3. Importantly, one Japanese and one Omani families carried compound biallelic mutations in two distinct genes (TMEM67/RPGRIP1L and TMEM138/BBS1, respectively). PMID: 27434533
4. The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity. PMID: 23393159
5. mutation analysis of TMEM67 in Joubert syndrome and related disorders cases and Meckel syndrome fetuses; identification of 20 novel mutations; review of published mutations and discussion of genotype-phenotype correlates PMID: 20232449
6. Data show that knockdown of MKS3 inhibited degradation of mutant SP-C. PMID: 19815549
7. mapping to chromosome 8 and possible role in Meckel-Gruber syndrome PMID: 12384791
8. Positional cloning of the Wpk gene suggested a MKS3 candidate gene, TMEM67, for which we identified pathogenic mutations for five MKS3-linked consanguineous families. PMID: 16415887
9. identified MKS3 mutations in four patients with JS, thus defining MKS3 as the sixth JS locus (JBTS6) PMID: 17160906
10. Mutations in MKS3 is associated with Bardet-Biedl syndrome PMID: 18327255
11. Analysis of MKS3 in 14 COACH families identified mutations in 8 (57%). PMID: 19058225
12. Missense mutations within the MKS3 gene are associated with nephronophthisis with liver fibrosis. PMID: 19508969
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相關疾病：

Meckel syndrome 3 (MKS3); Joubert syndrome 6 (JBTS6); Bardet-Biedl syndrome (BBS); COACH syndrome (COACHS); Nephronophthisis 11 (NPHP11)
亞細胞定位：

Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body.
組織特異性：

Widely expressed in adult and fetal tissues. Expressed at higher level in spinal cord.
數據庫鏈接：

HGNC: 28396

OMIM: 209900

KEGG: hsa:91147

STRING: 9606.ENSP00000389998

UniGene: Hs.116240

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