MFSD2A Chromosome 1
MFSD2 lysolipid transporter A, lysophospholipid
Upload your DNA to see your personal genotypes for variants in MFSD2A.
What This Gene Does
The protein encoded by this gene is a transmembrane protein and sodium-dependent lysophosphatidylcholine transporter. The encoded protein is involved in the establishment of the blood-brain barrier and is required for brain growth and function. Defects in this gene are a cause of a progressive microcephaly syndrome. [provided by RefSeq, Mar 2017]
Gene Info
Gene Group
Solute carrier family 59
Locus Type
gene with protein product
Location
1p34.2
Ensembl
ENSG00000168389
Associated Conditions (5)
Microcephaly 15
primary
autosomal recessive
Inborn genetic diseases
8 conditions
Key Variants
RS1057517689
Conflicting classifications of pathogenicity
Microcephaly 15, primary, autosomal recessive
Health Risk
RS139973362
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS147123833
Conflicting classifications of pathogenicity
Health Risk
RS199920612
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS374629919
Conflicting classifications of pathogenicity
Microcephaly 15, primary, autosomal recessive
Health Risk
RS1057517688
Pathogenic
Microcephaly 15, primary, autosomal recessive
Health Risk
RS1057519087
Pathogenic
Microcephaly 15, primary, autosomal recessive
Health Risk
RS1278119822
Pathogenic
Microcephaly 15, primary, autosomal recessive
Health Risk
RS1570238098
Pathogenic
8 conditions, 8 conditions
Health Risk
RS2124782476
Pathogenic
Microcephaly 15, primary, autosomal recessive
Health Risk
RS2522952803
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS758953000
Pathogenic
Microcephaly 15, primary, autosomal recessive
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057517689 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 15, primary, autosomal recessive |
| RS139973362 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS147123833 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199920612 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS374629919 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 15, primary, autosomal recessive |
| RS1057517688 | Health Risk | Pathogenic | Microcephaly 15, primary, autosomal recessive |
| RS1057519087 | Health Risk | Pathogenic | Microcephaly 15, primary, autosomal recessive |
| RS1278119822 | Health Risk | Pathogenic | Microcephaly 15, primary, autosomal recessive |
| RS1570238098 | Health Risk | Pathogenic | 8 conditions, 8 conditions |
| RS2124782476 | Health Risk | Pathogenic | Microcephaly 15, primary, autosomal recessive |
| RS2522952803 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS758953000 | Health Risk | Pathogenic | Microcephaly 15, primary, autosomal recessive |
| RS571640983 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly 15, primary, autosomal recessive |