Gene Symbol | CRIPT |
Entrez Gene ID | 9419 |
Full Name | CXXC repeat containing interactor of PDZ3 domain |
Synonyms | HSPC139,SSMDF |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a protein that binds to the PDZ3 peptide recognition domain. The encoded protein may modulates protein interactions with the cytoskeleton. A mutation in this gene resulted in short stature with microcephaly and distinctive facies. [provided by RefSeq, Jun 2014]. |
Disorder MIM: | |
Disorder Html: | Short stature with microcephaly and distinctive facies, 615789 (3) |