Gene: ZC4H2
Alternate names for this Gene: HCA127|KIAA1166|MCS|MRXS4|WRWF|WRWFFR|WWS
Gene Summary: 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 cognitive disability. Alternative splicing results in multiple transcript variants.
Gene is located in Chromosome: X
Location in Chromosome : Xq11.2
Description of this Gene: zinc finger C4H2-type containing
Type of Gene: protein-coding
rs1555933851 in
ZC4H2 gene and
Dysmorphic features
PMID 23623388 2013 ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.
PMID 26056227 2015 ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons.
rs1555933851 in
ZC4H2 gene and
Multiple congenital anomalies
PMID 26056227 2015 ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons.
PMID 23623388 2013 ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.
rs797044863 in
ZC4H2 gene and
Muscle hypotonia
PMID 23623388 2013 ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.
PMID 26056227 2015 ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons.
rs1057520297 in
ZC4H2 gene and
Wieacker-Wolff syndrome
PMID 23623388 2013 ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.
PMID 26056227 2015 ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons.