GATD1 Rabbit Polyclonal Antibody, 100ul Protein Research This gene encodes TBP

This gene encodes TBP

Mutations in this gene have been associated with isolated growth hormone deficiency (IGHD)

Aberrant binding to this subunit by proteins with expanded polyglutamine regions has been suggested as one of the pathogenetic mechanisms underlying a group of neurodegenerative disorders referred to as polyglutamine diseases

|disease:Defects in CFD are the cause of complement factor D deficiency

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GATD1 Rabbit Polyclonal Antibody, 100ul Protein Research This gene encodes TBPThe protein encoded by this gene contains a zinc finger at the N terminus and is thought to bind to a histone modification site that regulates gene expression. Mutations in this gene have been associated with autosomal recessive dilated cardiomyopathy. Alternatively spliced transcript variants have been found for this gene.