MAEA

Chr 4

macrophage erythroblast attacher, E3 ubiquitin ligase

Also known as: EMLP, EMP, GID9, HLC-10, P44EMLP, PIG5

NCBI Gene: 10296 ENSG00000090316 UniProt: Q7L5Y9

This gene encodes a core component of the CTLH E3 ubiquitin-protein ligase complex that mediates protein degradation and also facilitates erythroblast attachment to macrophages during red blood cell maturation. Mutations cause autosomal recessive neurodevelopmental disorder with seizures, microcephaly, and brain atrophy, typically presenting in infancy. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.517), consistent with its role in essential cellular processes including cell proliferation and neuronal development.

ResearchSummary from RefSeq, UniProt

This gene encodes a protein that mediates the attachment of erythroblasts to macrophages. This attachment promotes terminal maturation and enucleation of erythroblasts, presumably by suppressing apoptosis. The encoded protein is an integral membrane protein with the N-terminus on the extracellular side and the C-terminus on the cytoplasmic side of the cell. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.52

LOEUF

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Mechanism

Some data sources returned errors (1)

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