La Ribonucleoprotein 7, Transcriptional Regulator

Alternative Names

  • LARP7
  • La Ribonucleoprotein Domain Family, Member 7
  • PTEFB Interaction Protein For 7SK Stability
  • PIP7s

Associated Diseases

Alazami Syndrome
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OMIM Number

612026

NCBI Gene ID

51574

Uniprot ID

Q4G0J3

Length

20,444 bases

No. of Exons

17

No. of isoforms

3

Protein Name

La-related protein 7

Molecular Mass

66899 Da

Amino Acid Count

582

Genomic Location

chr4:112,637,142-112,657,585

Gene Map Locus
4q25

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001267039.1:c.752delUnited Arab EmiratesNC_000004.12:g.112647283delLikely PathogenicAlazami SyndromeNG_032779.1:g.15320del; NM_001267039.1:c.752del; NP_001253968.1:p.Ser251ThrfsTer8752648225
NM_016648.4:c.1024_1030dupSaudi ArabiaNC_000004.12:g.112647716_112647722dupPathogenicPathogenicAlazami SyndromeNG_032779.1:g.15753_15759dup; NM_016648.4:c.1024_1030dup; NP_057732.2:p.Thr344LysfsTer9105751901739615
NM_016648.4:c.503_504dupAlgeriaNC_000004.12:g.112646906_112646907dupPathogenicLikely PathogenicAlazami SyndromeNG_032779.1:g.14943_14944dup; NM_016648.4:c.503_504dup; NP_057732.2:p.Ala169LeufsTer371554011296523643
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