{PDOC51896}
{PS51896; ZF_C4H2}
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* Zinc finger C4H2-type profile *
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ZC4H2, which  belongs  to  a  conserved gene family found in all metazoans, is
located on  the  X  chromosome  and  has been found to be expressed in various
human tissues,  particularly fetal brain. ZC4H2 plays an important role during
embryonic development   of   the   central  and  peripheral  nervous  systems.
Alterations of  ZC4H2  orthologues in mouse brain and zebrafish affect central
nervous system   (CNS)   embryogenesis,   particularly   the  development  and
specification of dendritic spines. In humans, defects in ZC4H2 have been found
in males  affected  by  severe intellectual disability in variable association
with spasticity,   hypereflexia   and/or  pyramidal  signs,  seizures  or  CNS
abnormalities, muscle   weakness,   and   joint  contractures  (arthrogryposis
multiplex congenital;  AMC). The ZC4H2 gene encodes a zinc-finger protein with
a C-terminal  domain, which includes a putative C4H2 zinc-finger characterized
by four cysteine residues and two histidine residues, and a coiled-coil domain
[1,2,3,4].

Some proteins known to contain a C4H2-type zinc finger are listed below:

 - Vertebrate ZC4H2.
 - Caenorhabditis elegans VAB-23.

The profile we developed covers the entire C4H2-type zinc finger.

-Sequences known to belong to this class detected by the profile: ALL.
-Other sequence(s) detected in Swiss-Prot: NONE.
-Last update: June 2019 / First entry.

[ 1] Pellegrino M.W., Gasser R.B., Sprenger F., Stetak A., Hajnal A.
     "The conserved zinc finger protein VAB-23 is an essential regulator of
     epidermal morphogenesis in Caenorhabditis elegans."
     Dev. Biol. 336:84-93(2009).
     PubMed=19799893; DOI=10.1016/j.ydbio.2009.09.036
[ 2] Hirata H., Nanda I., van Riesen A., McMichael G., Hu H., Hambrock M.,
     Papon M.-A., Fischer U., Marouillat S., Ding C., Alirol S., Bienek M.,
     Preisler-Adams S., Grimme A., Seelow D., Webster R., Haan E.,
     MacLennan A., Stenzel W., Yap T.Y., Gardner A., Nguyen L.S., Shaw M.,
     Lebrun N., Haas S.A., Kress W., Haaf T., Schellenberger E., Chelly J.,
     Viot G., Shaffer L.G., Rosenfeld J.A., Kramer N., Falk R.,
     El-Khechen D., Escobar L.F., Hennekam R., Wieacker P., Huebner C.,
     Ropers H.-H., Gecz J., Schuelke M., Laumonnier F., Kalscheuer V.M.
     "ZC4H2 mutations are associated with arthrogryposis multiplex
     congenita and intellectual disability through impairment of central
     and peripheral synaptic plasticity."
     Am. J. Hum. Genet. 92:681-695(2013).
     PubMed=23623388; DOI=10.1016/j.ajhg.2013.03.021
[ 3] Zanzottera C., Milani D., Alfei E., Rizzo A., D'Arrigo S.,
     Esposito S., Pantaleoni C.
     "ZC4H2 deletions can cause severe phenotype in female carriers."
     Am. J. Med. Genet. A. 173:1358-1363(2017).
     PubMed=28345801; DOI=10.1002/ajmg.a.38155
[ 4] Ma P., Ren B., Yang X., Sun B., Liu X., Kong Q., Li C., Mao B.
     "ZC4H2 stabilizes Smads to enhance BMP signalling, which is involved
     in neural development in Xenopus."
     Open. Biol. 7:0-0(2017).
     PubMed=28814648; DOI=10.1098/rsob.170122

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