RCOR1 Chromosome 14

REST corepressor 1

1 variant 1 Health Risk

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What This Gene Does

This gene encodes a protein that is well-conserved, downregulated at birth, and with a specific role in determining neural cell differentiation. The encoded protein binds to the C-terminal domain of REST (repressor element-1 silencing transcription factor). [provided by RefSeq, Aug 2011]

Gene Info

Gene Group

Myb/SANT domain containing

Locus Type

gene with protein product

Location

14q32.31

Ensembl

ENSG00000089902

Associated Conditions (1)

Joubert syndrome

Key Variants

RS754404879

Likely pathogenic

Joubert syndrome, Joubert syndrome

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS754404879	Health Risk	Likely pathogenic	Joubert syndrome, Joubert syndrome