MFSD1 is a 465 amino acid multi-pass membrane protein that exists as two isoforms as a result of alternative splicing events. A related protein, MFSD2, may play a role in placenta morphogenesis and may also be involved in adaptive thermogenesis. The gene encoding MFSD1 maps to human chromosome 3, which is made up of about 214 million bases encoding over 1,100 genes, including a chemokine receptor (CKR) gene cluster and a variety of human cancer-related gene loci. Marfan Syndrome, porphyria, von Hippel-Lindau syndrome, osteogenesis imperfecta and Charcot-Marie-Tooth Disease are a few of the numerous genetic diseases associated with chromosome 3.
Function:
May play a role in eye development.
Subcellular Location:
Membrane; Single-pass type II membrane protein
Tissue Specificity:
Specifically expressed in brain. Strongly expressed in medulla oblongata and to a lower extent in hippocampus and corpus callosum. Expressed in keratinocytes.
DISEASE:
Nanophthalmos 2 (NNO2) [MIM:609549]: Rare autosomal recessive disorder of eye development characterized by extreme hyperopia and small functional eyes.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8
Microphthalmia, isolated, 5 (MCOP5) [MIM:611040]: A disorder characterized by posterior microphthalmia, retinitis pigmentosa, foveoschisis and optic disk drusen. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present.
Note: The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Contains 2 CUB domains.
Contains 1 FZ (frizzled) domain.
Contains 2 LDL-receptor class A domains.
SWISS:
Q9H3U5
Gene ID:
64747
Database links:
Entrez Gene: 64747 Human
Entrez Gene: 66868 Mouse
Entrez Gene: 361957 Rat
Entrez Gene: 641486 Zebrafish
SwissProt: Q9H3U5 Human
SwissProt: Q9DC37 Mouse
SwissProt: Q32LQ6 Zebrafish
Unigene: 58663 Human
Unigene: 271975 Mouse
Unigene: 391791 Rat
Unigene: 121245 Zebrafish
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