CERT1 Chromosome 5
Ceramide transporter 1
Upload your DNA to see your personal genotypes for variants in CERT1.
What This Gene Does
This gene encodes a kinase that specifically phosphorylates the N-terminal region of the non-collagenous domain of the alpha 3 chain of type IV collagen, known as the Goodpasture antigen. Goodpasture disease is the result of an autoimmune response directed at this antigen. One isoform of this protein is also involved in ceramide intracellular transport. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Pleckstrin homology domain containing|StAR related lipid transfer domain containing"
Locus Type
gene with protein product
Location
5q13.3
Ensembl
ENSG00000113163
Associated Conditions (3)
Intellectual disability
autosomal dominant 34
Inborn genetic diseases
Key Variants
RS1026933314
Conflicting classifications of pathogenicity
Health Risk
RS1064794019
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 34, Inborn genetic diseases
Health Risk
RS1763618466
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 34, Intellectual disability
Health Risk
RS977873801
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS995534431
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1057522045
Likely pathogenic
Health Risk
RS1554038957
Likely pathogenic
Health Risk
RS1580752093
Likely pathogenic
Intellectual disability, autosomal dominant 34, Intellectual disability
Health Risk
RS1763619016
Likely pathogenic
Inborn genetic diseases, Intellectual disability, autosomal dominant 34
Health Risk
RS2112150100
Likely pathogenic
Intellectual disability, autosomal dominant 34, Intellectual disability
Health Risk
RS2479447199
Likely pathogenic
Health Risk
RS1554039069
Pathogenic
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1026933314 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1064794019 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal dominant 34, Inborn genetic diseases |
| RS1763618466 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal dominant 34, Intellectual disability |
| RS977873801 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS995534431 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1057522045 | Health Risk | Likely pathogenic | — |
| RS1554038957 | Health Risk | Likely pathogenic | — |
| RS1580752093 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 34, Intellectual disability |
| RS1763619016 | Health Risk | Likely pathogenic | Inborn genetic diseases, Intellectual disability, autosomal dominant 34 |
| RS2112150100 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 34, Intellectual disability |
| RS2479447199 | Health Risk | Likely pathogenic | — |
| RS1554039069 | Health Risk | Pathogenic | — |
| RS1554048616 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 34, Intellectual disability |
| RS2112093130 | Health Risk | Pathogenic | — |