MELTF

Chr 3

melanotransferrin

Also known as: CD228, MAP97, MFI2, MTF1, MTf

NCBI Gene: 4241 ENSG00000163975 UniProt: P08582 OMIM: 155750

This protein is a cell-surface glycoprotein that binds and transports iron into cells, with structural similarity to the transferrin family of iron-binding proteins. Mutations cause melanotransferrin deficiency, which is inherited in an autosomal recessive pattern. The gene is not highly constrained against loss-of-function variants, suggesting complete loss may be tolerated.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a cell-surface glycoprotein found on melanoma cells. The protein shares sequence similarity and iron-binding properties with members of the transferrin superfamily. The importance of the iron binding function has not yet been identified. This gene resides in the same region of chromosome 3 as members of the transferrin superfamily. Alternative splicing results in two transcript variants. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.13

LOEUF

Mechanism· predicted