# Chromosome 12 open reading frame 57

> mammalian protein found in Homo sapiens

**Wikidata**: [Q21115577](https://www.wikidata.org/wiki/Q21115577)  
**Source**: https://4ort.xyz/entity/chromosome-12-open-reading-frame-57


## References

1. UniProt
2. [InterPro Release 71.0](http://www.ebi.ac.uk/interpro/protein/Q99622)
3. Q20641742
4. [GOA](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q99622)
5. [Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q99622)
6. [Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q99622)
7. [Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q99622)
8. [A newly recognized autosomal recessive syndrome affecting neurologic function and vision](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q99622)
9. Ensembl Release 99