Aliases for LOC111365204 Gene
External Ids for LOC111365204 Gene
- Entrez Gene: 111365204
This genomic region represents a DNase I hypersensitive site (DHS) that is present in the intergenic region between the cyclin C (CCNC) and PR/SET domain 13 (PRDM13) genes on chromosome 6. Mutations in this region are associated with autosomal dominant retinal macular dystrophy of the North Carolina type (NCMD, also known as MCDR1). Three single nucleotide variants, V1, V2 and V3, which are associated with this disease, have been identified within this DHS. This DHS is also known to be duplicated along with the PRDM13 and/or CCNC genes in forms of NCMD associated with genomic duplication events. It is thought that this DHS regulates the PRDM13 gene, whose expression is negatively correlated with retinal development, and dysregulation or overexpression of this gene results in the NCMD disease. [provided by RefSeq, Nov 2017]
GeneCards Summary for LOC111365204 Gene
LOC111365204 (CCNC And PRDM13 Intergenic Region DNase I Hypersensitve Site DHS6S1) is a Biological Region gene. Diseases associated with LOC111365204 include Macular Dystrophy, Retinal, 1, North Carolina Type.