AMMECR1

Chr XXLR

AMMECR nuclear protein 1

Also known as: AMMERC1, MFHIEN

NCBI Gene: 9949 ENSG00000101935 UniProt: Q9Y4X0 OMIM: 300195

The exact function of the AMMECR1 protein is unknown, but deletions involving this gene along with neighboring genes cause AMME complex, characterized by midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis. This X-linked recessive condition is part of a contiguous gene deletion syndrome that affects multiple organ systems including craniofacial development, auditory function, hematologic systems, and kidneys. The gene shows high constraint against loss-of-function variants (pLI 0.82, LOEUF 0.47), suggesting intolerance to protein loss.

OMIM ResearchSummary from RefSeq, OMIM

The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosisMIM #300990

XLR

UniProtAMME complex

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

0.47

LOEUF

LOF

Mechanism· predicted