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- Table of Contents
Facts about Zinc finger C4H2 domain-containing protein.
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Human | |
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Gene Name: | ZC4H2 |
Uniprot: | Q9NQZ6 |
Entrez: | 55906 |
Belongs to: |
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No superfamily |
Zinc finger C4H2 domain-containing protein
Mass (kDA):
26.244 kDA
Human | |
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Location: | Xq11.2 |
Sequence: | X; NC_000023.11 (64915802..65034741, complement) |
Expressed in fetal tissues, including in brain, intestine, lung, kidney and muscle (PubMed:23623388). Isoform 1 is expressed in numerous fetal brain regions. Isoform 3 is highly expressed in numerous fetal brain regions and spinal cord (PubMed:26056227).
Cytoplasm. Nucleus. Cell junction, synapse, postsynaptic cell membrane. Upon transfection into mouse primary hippocampal neurons, localizes at excitatory, but not inhibitory, postsynaptic sites.
PMID: 12097419 by Wang Y., et al. Large scale identification of human hepatocellular carcinoma- associated antigens by autoantibodies.
PMID: 23623388 by Hirata H., et al. ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.