GATD1 Rabbit Polyclonal Antibody, 100ul Protein Research |disease:Defects in CFD are the

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

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

Members of this family are required for cytokinesis and the maintenance of cellular morphology

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

GATD1 Rabbit Polyclonal Antibody, 100ul Protein Research |disease:Defects in CFD are theThe 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.