Gene
mfsd2ab
- ID
- ZDB-GENE-040801-89
- Name
- MFSD2 lysolipid transporter A, lysophospholipid b
- Symbol
- mfsd2ab Nomenclature History
- Previous Names
-
- mfsd2
- mfsd2b
- zgc:101069
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Predicted to enable lysophospholipid:sodium symporter activity. Acts upstream of or within lysophospholipid transport. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in plasma membrane. Is expressed in central nervous system. Human ortholog(s) of this gene implicated in primary autosomal recessive microcephaly 15. Orthologous to human MFSD2A (MFSD2 lysolipid transporter A, lysophospholipid).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Guemez-Gamboa et al., 2015
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| primary autosomal recessive microcephaly 15 | Alliance | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities | 616486 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Lactose permease-like | MFS transporter superfamily |
|---|---|---|---|
|
UniProtKB:Q6DEJ6
|
523 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
mfsd2ab-201
(1)
|
Ensembl | 3,304 nt | ||
| ncRNA |
mfsd2ab-002
(1)
|
Ensembl | 572 nt |
Interactions and Pathways
No data available
Plasmids
No data available