ZNF81 Chromosome X
Zinc finger protein 81
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What This Gene Does
This gene encodes a protein that likely functions as a transcription factor. The protein contains an N-terminal KRAB domain and several C2H2-type zinc finger motifs. Mutations in this gene cause an X-linked form of intellectual disability (MRX45). Microduplication of a region of chromosome X including this gene has also been associated with other forms of intellectual disability. [provided by RefSeq, Jul 2017]
Gene Info
Gene Group
"Zinc fingers C2H2-type|KRAB domain containing"
Locus Type
gene with protein product
Location
Xp11.23
Ensembl
ENSG00000197779
Associated Conditions (8)
Colon adenocarcinoma
Gastric cancer
Ovarian serous cystadenocarcinoma
Malignant tumor of urinary bladder
Thyroid cancer
nonmedullary
1
Familial cancer of breast
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200890712 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS41312157 | Health Risk | Conflicting classifications of pathogenicity | Colon adenocarcinoma, Gastric cancer, Ovarian serous cystadenocarcinoma |