MFSD2A MFSD2 lysolipid transporter A, lysophospholipid
Gene ID: 84879, updated on 11-Apr-2024Gene type: protein coding
Also known as: NLS1; MFSD2; MCPH15; SLC59A1; HsMFSD2A; NEDMISBA
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- Go to complete Gene record for MFSD2A
- Go to Variation Viewer for MFSD2A variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans. GeneReviews: Not available | |
| Microcephaly 15, primary, autosomal recessive | See labs |
Genomic context
- Location:
- 1p34.2
- Sequence:
- Chromosome: 1; NC_000001.11 (39955145..39969956)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MFSD2A variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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