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重组16号染色体开放阅读框48蛋白
本产品不向个人销售,仅用作科学研究,不用于任何人体实验及非科研性质的动物实验。

Recombinant ENKD1
Recombinant enkurin domain containing 1 protein
基因名:

ENKD1


产品别名:

C16orf48; DAKV6410; FBB11; ENKD1; enkurin domain containing 1; enkurin domain containing 1; enkurin domain-containing protein 1; 16号染色体开放阅读框48;


背景信息:
Chromosome 16 encodes over 900 genes in approximately 90 million base pairs, makes up nearly 3% of human cellular DNA and is associated with a variety of genetic disorders. The GAN gene is located on chromosome 16 and, with mutation, may lead to giant axonal neuropathy, a nervous system disorder characterized by increasing malfunction with growth. The rare disorder Rubinstein-Taybi syndrome is also associated with chromosome 16, though through the CREBBP gene which encodes a critical CREB binding protein. Signs of Rubinstein-Taybi include mental retardation and predisposition to tumor growth and white blood cell neoplasias. Crohn's disease is a gastrointestinal inflammatory condition associated with chromosome 16 through the NOD2 gene. An association with systemic lupus erythematosis and a number of other autoimmune disorders with the pericentromeric region of chromosome 16 has led to the identification of SLC5A11 as a potential autoimmune modifier. The C16orf48 gene product has been provisionally designated C16orf48 pending further characterization.
 
 
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