MFAP4

Chr 17

microfibril associated protein 4

NCBI Gene: 4239 ENSG00000166482 UniProt: P55083

This gene encodes a microfibril-associated protein that binds collagen and carbohydrates and contributes to elastic fiber assembly and maintenance in the extracellular matrix. Mutations cause autosomal recessive developmental delay, intellectual disability, distinctive facial features, and connective tissue abnormalities including joint hypermobility and skin hyperextensibility. The gene has moderate constraint against loss-of-function variants.

ResearchSummary from RefSeq, UniProt

This gene encodes a protein with similarity to a bovine microfibril-associated protein. The protein has binding specificities for both collagen and carbohydrate. It is thought to be an extracellular matrix protein which is involved in cell adhesion or intercellular interactions. The gene is located within the Smith-Magenis syndrome region. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]

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)

—

P/LP submissions

—

P/LP missense

0.67

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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