LARP7

Chr 4

La ribonucleoprotein 7, transcriptional regulator

Also known as: ALAZS, HDCMA18P, PIP7S, hLARP7

NCBI Gene: 51574 ENSG00000174720 UniProt: Q4G0J3

The LARP7 protein binds to specific small nuclear RNAs (7SK and U6 snRNAs) and regulates RNA polymerase II transcriptional elongation and mRNA splicing fidelity through its roles in ribonucleoprotein complexes. Biallelic mutations cause Alazami syndrome, an autosomal recessive disorder. This gene shows low constraint against loss-of-function variants (pLI near zero).

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a protein which is found in the 7SK snRNP (small nuclear ribonucleoprotein). This snRNP complex inhibits a cyclin-dependent kinase, positive transcription elongation factor b, which is required for paused RNA polymerase II at a promoter to begin transcription elongation. A pseudogene of this gene is located on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtAlazami syndrome

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.84

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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