ZC4H2 gene

zinc finger C4H2-type containing

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Aug 2011]

From UniProt:

May play a role in neuronal development and in neuromuscular junction formation.

From UniProt:

Wieacker-Wolf syndrome (WRWF): A severe X-linked recessive neurodevelopmental disorder affecting the central and peripheral nervous systems. It is characterized by onset of muscle weakness in utero (fetal akinesia). Affected boys are born with severe contractures, known as arthrogryposis, and have delayed motor development, facial and bulbar weakness, characteristic dysmorphic facial features, and skeletal abnormalities, such as hip dislocation, scoliosis, and pes equinovarus. Those that survive infancy show mental retardation. Carrier females may have mild features of the disorder. [MIM:314580]

Cytogenetic Location: Xq11.2, which is the long (q) arm of the X chromosome at position 11.2

Molecular Location: base pairs 64,915,802 to 65,034,744 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Xq11.2, which is the long (q) arm of the X chromosome at position 11.2
  • HCA127
  • KIAA1166
  • WRWF
  • WWS