LARP7 La ribonucleoprotein 7, transcriptional regulator

Gene ID: 51574, updated on 14-Nov-2024
Gene type: protein coding
Also known as: ALAZS; PIP7S; hLARP7; HDCMA18P

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Microcephalic primordial dwarfism, Alazami type MedGen: C3554439OMIM: 615071GeneReviews: Not available	See labs

Genomic context

Location:: 4q25

Sequence:: Chromosome: 4; NC_000004.12 (112637143..112657586)

Total number of exons:: 17

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for LARP7 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
LARP7 @ LOVD
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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