MTPAP Chromosome 10
Mitochondrial poly(A) polymerase
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What This Gene Does
The protein encoded by this gene is a member of the DNA polymerase type-B-like family. This enzyme synthesizes the 3' poly(A) tail of mitochondrial transcripts and plays a role in replication-dependent histone mRNA degradation.[provided by RefSeq, Jan 2011]
Gene Info
Gene Group
"Non-canonical poly(A) polymerases|Terminal nucleotidyltransferases"
Locus Type
gene with protein product
Location
10p11.23
Ensembl
ENSG00000107951
Associated Conditions (5)
Spastic ataxia 4
Inborn genetic diseases
Familial cancer of breast
Acute myeloid leukemia
Spastic ataxia
Key Variants
RS1356166646
Conflicting classifications of pathogenicity
Health Risk
RS140416149
Conflicting classifications of pathogenicity
Spastic ataxia 4, Inborn genetic diseases, Spastic ataxia 4
Health Risk
RS147174746
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS148562969
Conflicting classifications of pathogenicity
Health Risk
RS201064853
Conflicting classifications of pathogenicity
Familial cancer of breast, Acute myeloid leukemia, Familial cancer of breast
Health Risk
RS372811219
Conflicting classifications of pathogenicity
Health Risk
RS756511637
Conflicting classifications of pathogenicity
Spastic ataxia 4, Inborn genetic diseases, Spastic ataxia 4
Health Risk
RS765205515
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS771402747
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS918158750
Conflicting classifications of pathogenicity
Inborn genetic diseases, Spastic ataxia 4, Inborn genetic diseases
Health Risk
RS1330765515
Likely pathogenic
Spastic ataxia, Spastic ataxia
Health Risk
RS267606900
Pathogenic
Spastic ataxia 4, Spastic ataxia 4
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1356166646 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS140416149 | Health Risk | Conflicting classifications of pathogenicity | Spastic ataxia 4, Inborn genetic diseases, Spastic ataxia 4 |
| RS147174746 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS148562969 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201064853 | Health Risk | Conflicting classifications of pathogenicity | Familial cancer of breast, Acute myeloid leukemia, Familial cancer of breast |
| RS372811219 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS756511637 | Health Risk | Conflicting classifications of pathogenicity | Spastic ataxia 4, Inborn genetic diseases, Spastic ataxia 4 |
| RS765205515 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS771402747 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS918158750 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Spastic ataxia 4, Inborn genetic diseases |
| RS1330765515 | Health Risk | Likely pathogenic | Spastic ataxia, Spastic ataxia |
| RS267606900 | Health Risk | Pathogenic | Spastic ataxia 4, Spastic ataxia 4 |