C12orf57 Antibody

Name: C12orf57 Antibody
Brand: CUSABIO
SKU: CSB-PA859105LA01HU

产品详情

标记方式：

Non-conjugated

本页面中的产品，C12orf57 Antibody (CSB-PA859105LA01HU)，的标记方式是Non-conjugated。对于C12orf57 Antibody，我们还提供其他标记。见下表：

标记方式	货号	产品名称	应用
HRP	CSB-PA859105LB01HU	C12orf57 Antibody, HRP conjugated	ELISA
FITC	CSB-PA859105LC01HU	C12orf57 Antibody, FITC conjugated
Biotin	CSB-PA859105LD01HU	C12orf57 Antibody, Biotin conjugated	ELISA

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：

In brain, may be required for corpus callosum development.
基因功能参考文献：
1. Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures. PMID: 24798461
2. The findings strongly support the candidacy of C12orf57 as a gene that is mutated in a distinct syndromic form of colobomatous microphthalmia in humans. PMID: 23453665
相关疾病：

Temtamy syndrome (TEMTYS)
亚细胞定位：

Cytoplasm.
蛋白家族：

UPF0456 family
组织特异性：

Ubiquitously expressed, with higher expression in lung and fetal brain.
数据库链接：

HGNC: 29521

OMIM: 218340

KEGG: hsa:113246

STRING: 9606.ENSP00000229281

UniGene: Hs.405913