ZC4H2
Function
Plays a role in interneurons differentiation (PubMed:26056227). Involved in neuronal development and in neuromuscular junction formation.
Involvement in disease
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 intellectual disability. Carrier females may have mild features of the disorder.
None
The disease is caused by variants affecting the gene represented in this entry.
Wieacker-Wolff syndrome, female-restricted
WRWFFR
An X-linked dominant neurodevelopmental disorder affecting the central and peripheral nervous systems. It is characterized by onset of muscle weakness in utero resulting in fetal akinesia, arthrogryposis multiplex congenita and diffuse contractures apparent at birth, global developmental delay with difficulty walking or inability to walk, hypotonia, variably impaired intellectual development, poor or absent speech and language, and dysmorphic features.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
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).
Cellular localization
- Cytoplasm
- Nucleus
- Postsynaptic cell membrane
- Upon transfection into mouse primary hippocampal neurons, localizes at excitatory, but not inhibitory, postsynaptic sites.
Alternative names
HCA127, KIAA1166, ZC4H2, Zinc finger C4H2 domain-containing protein, Hepatocellular carcinoma-associated antigen 127