RPL36A

Chr X

ribosomal protein L36a

Also known as: L36A, L44L, MIG6, RPL44, eL42

NCBI Gene: 6173 ENSG00000241343 UniProt: P83881

The protein is a component of the large 60S ribosomal subunit that synthesizes proteins in the cell. Mutations in RPL36A cause autosomal dominant microcephaly, short stature, and limb malformations with early childhood onset. The gene shows moderate constraint to loss-of-function variants, and the condition affects growth and development across multiple organ systems.

ResearchSummary from RefSeq, UniProt

Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein, which shares sequence similarity with yeast ribosomal protein L44, belongs to the L44E (L36AE) family of ribosomal proteins. Although this gene has been referred to as ribosomal protein L44 (RPL44), its official name is ribosomal protein L36a (RPL36A). This gene and the human gene officially named ribosomal protein L36a-like (RPL36AL) encode nearly identical proteins; however, they are distinct genes. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Naturally occurring read-through transcription occurs between this locus and the heterogeneous nuclear ribonucleoprotein H2 (H') gene. [provided by RefSeq, Jan 2011]

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

0.89

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

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