NACC1 Chromosome 19
Nucleus accumbens associated 1
Upload your DNA to see your personal genotypes for variants in NACC1.
What This Gene Does
This gene encodes a member of the BTB/POZ protein family. BTB/POZ proteins are involved in several cellular processes including proliferation, apoptosis and transcription regulation. The encoded protein is a transcriptional repressor that plays a role in stem cell self-renewal and pluripotency maintenance. The encoded protein also suppresses transcription of the candidate tumor suppressor Gadd45GIP1, and expression of this gene may play a role in the progression of multiple types of cancer. A pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, Feb 2012]
Gene Info
Gene Group
"BEN domain containing|BTB domain containing"
Locus Type
gene with protein product
Location
19p13.13
Ensembl
ENSG00000160877
Associated Conditions (8)
Inborn genetic diseases
Neurodevelopmental disorder
Neurodevelopmental disorder with epilepsy
cataracts
feeding difficulties
and delayed brain myelination
Microcephaly
NACC1-related disorder
Key Variants
RS1330937800
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1555722264
Conflicting classifications of pathogenicity
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS201811994
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties
Health Risk
RS2019706242
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties
Health Risk
RS2019737049
Conflicting classifications of pathogenicity
Health Risk
RS2145623030
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties
Health Risk
RS2145623884
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2145624427
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2145625749
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties
Health Risk
RS2145625752
Conflicting classifications of pathogenicity
Health Risk
RS541005316
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS748364235
Conflicting classifications of pathogenicity
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1330937800 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1555722264 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS201811994 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties |
| RS2019706242 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties |
| RS2019737049 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2145623030 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties |
| RS2145623884 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2145624427 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2145625749 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties |
| RS2145625752 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS541005316 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS748364235 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS759246551 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS767833951 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS775567968 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties |
| RS928740437 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly, Inborn genetic diseases, Microcephaly |
| RS2019693030 | Health Risk | Likely pathogenic | — |
| RS2145626399 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties |
| RS2145623385 | Health Risk | Pathogenic | — |
| RS1060505041 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties |