ZCCHC12 Chromosome X
Zinc finger CCHC-type containing 12
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What This Gene Does
This gene encodes a downstream effector of bone morphogenetic protein (BMP) signalling. This protein contains a zinc finger domain and functions as a transcriptional coactivator. Variation in this gene may be associated with X-linked cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
Gene Info
Gene Group
"Zinc fingers CCHC-type|Paraneoplastic Ma antigens"
Locus Type
gene with protein product
Location
Xq24
Ensembl
ENSG00000174460
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS190906444 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS776795981 | Health Risk | Conflicting classifications of pathogenicity | — |