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anti-Rat (Rattus) ZC4H2 Antibodies:
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The present patient confirms that female carriers can also be severely affected. Systematic clinical investigations of both males and females are needed to define the variety in nature and severity of phenotypes related to ZC4H2 variants.
ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.
In mouse primary hippocampal neurons, transiently produced ZC4H2 localized to the postsynaptic compartment of excitatory synapses, and the altered protein influenced dendritic spine density.
This gene encodes a member of the zinc finger domain-containing protein family. This family member has a C-terminal zinc finger domain that is characterized by four cysteine residues and two histidine residues, and it also includes a coiled-coil region. This protein has been detected as an autoantigen in hepatocellular carcinoma patients. This gene has been identified as a potential candidate for X-linked mental retardation. Alternative splicing results in multiple transcript variants.
zinc finger C4H2 domain-containing protein
, hepatocellular carcinoma-associated antigen 127
, hepatocellular carcinoma-associated antigen 127 homolog