MBOAT7 Chromosome 19
Membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7
Upload your DNA to see your personal genotypes for variants in MBOAT7.
What This Gene Does
This gene encodes a member of the membrane-bound O-acyltransferases family of integral membrane proteins that have acyltransferase activity. The encoded protein is a lysophosphatidylinositol acyltransferase that has specificity for arachidonoyl-CoA as an acyl donor. This protein is involved in the reacylation of phospholipids as part of the phospholipid remodeling pathway known as the Land cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]
Gene Info
Gene Group
"Membrane bound O-acyltransferase family|Lysophospholipid acyltransferases"
Locus Type
gene with protein product
Location
19q13.42
Ensembl
ENSG00000125505
Associated Conditions (5)
Intellectual disability
autosomal recessive 57
Inborn genetic diseases
MBOAT7-related disorder
Neurodevelopmental abnormality
Key Variants
RS185682596
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 57, Intellectual disability
Health Risk
RS201012145
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2076453599
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 57, Intellectual disability
Health Risk
RS2076192966
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2076453977
Likely pathogenic
Intellectual disability, Intellectual disability
Health Risk
RS2076508722
Likely pathogenic
Intellectual disability, autosomal recessive 57, Intellectual disability
Health Risk
RS2146989146
Likely pathogenic
Intellectual disability, autosomal recessive 57, Intellectual disability
Health Risk
RS2515037913
Likely pathogenic
Intellectual disability, autosomal recessive 57, Intellectual disability
Health Risk
RS2515178934
Likely pathogenic
MBOAT7-related disorder, MBOAT7-related disorder
Health Risk
RS372024006
Likely pathogenic
Health Risk
RS868498080
Likely pathogenic
Intellectual disability, autosomal recessive 57, Intellectual disability
Health Risk
RS886041058
Likely pathogenic
Intellectual disability, autosomal recessive 57, Intellectual disability
Health Risk
All Variants (23)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS185682596 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 57, Intellectual disability |
| RS201012145 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2076453599 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 57, Intellectual disability |
| RS2076192966 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2076453977 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS2076508722 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 57, Intellectual disability |
| RS2146989146 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 57, Intellectual disability |
| RS2515037913 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 57, Intellectual disability |
| RS2515178934 | Health Risk | Likely pathogenic | MBOAT7-related disorder, MBOAT7-related disorder |
| RS372024006 | Health Risk | Likely pathogenic | — |
| RS868498080 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 57, Intellectual disability |
| RS886041058 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 57, Intellectual disability |
| RS1382747435 | Health Risk | Pathogenic | — |
| RS1600651595 | Health Risk | Pathogenic | — |
| RS2076013475 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 57, Neurodevelopmental abnormality |
| RS2076017638 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 57, Intellectual disability |
| RS2515145626 | Health Risk | Pathogenic | — |
| RS2515181224 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS750035706 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 57, Inborn genetic diseases |
| RS886041059 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 57, Intellectual disability |
| RS886041060 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 57, Intellectual disability |
| RS886041061 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 57, Intellectual disability |
| RS1264222654 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal recessive 57, Intellectual disability |