ZCCHC8 Chromosome 12

Zinc finger CCHC-type containing 8
10 variants 10 Health Risk

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What This Gene Does
This gene encodes a scaffold protein which serves as an assessory factor to the nuclear RNA exosome complex. The encoded protein forms a trimeric human nuclear exosome targeting (NEXT) complex, together with hMTR4 and the RNA-binding factor RBM7 which promotes the exosomal degradation of non-coding promoter-upstream transcripts, enhancer RNAs and 3'-extended products of histone- and small nuclear RNA transcription. This complex is also thought to recruit the exosome to degrade intronic RNAs via its interaction with both the exosome and the spliceosome. It contains both an N-terminal zinc-knuckle domain and a C-terminal proline-rich domain. [provided by RefSeq, Apr 2017]
Gene Info
Gene Group
"Zinc fingers CCHC-type|Nuclear exosome targeting complex"
Locus Type
gene with protein product
Location
12q24.31
Ensembl
ENSG00000033030
Associated Conditions (7)
ZCCHC8-related disorder
Inherited aplastic anemia
Pulmonary fibrosis and/or bone marrow failure
telomere-related
5
Dyskeratosis congenita
Inherited acute myeloid leukemia
Key Variants
All Variants (10)
RSID Category Clinical Significance Conditions
RS181255243 Health Risk Conflicting classifications of pathogenicity ZCCHC8-related disorder, ZCCHC8-related disorder
RS372521431 Health Risk Conflicting classifications of pathogenicity
RS748005137 Health Risk Conflicting classifications of pathogenicity
RS762526701 Health Risk Conflicting classifications of pathogenicity
RS771364943 Health Risk Conflicting classifications of pathogenicity
RS868811989 Health Risk Conflicting classifications of pathogenicity Inherited aplastic anemia, Inherited aplastic anemia
RS1957578325 Health Risk Likely pathogenic Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5
RS2547206698 Health Risk Likely pathogenic Inherited acute myeloid leukemia, Inherited acute myeloid leukemia
RS2547213859 Health Risk Likely pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS1317757765 Health Risk Pathogenic Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5
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