LARP7 gene

La ribonucleoprotein domain family member 7

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Negative transcriptional regulator of polymerase II genes, acting by means of the 7SK RNP system. Within the 7SK RNP complex, the positive transcription elongation factor b (P-TEFb) is sequestered in an inactive form, preventing RNA polymerase II phosphorylation and subsequent transcriptional elongation.

From NCBI Gene:

  • Alazami syndrome

From UniProt:

Alazami syndrome (ALAZS): A syndromic form of primordial dwarfism, a condition characterized by severe growth restriction that has its onset in utero, and results in short stature and undersize. ALAZS patients manifest severe intellectual disability and distinct facial features including malar hypoplasia, deep-set eyes, broad nose, short philtrum, and macrostomia. Some patients have non-specific and inconsistent skeletal findings, for example, scoliosis and mild epiphyseal changes in the proximal phalanges, but no frank dysplasia. [MIM:615071]

Cytogenetic Location: 4q25, which is the long (q) arm of chromosome 4 at position 25

Molecular Location: base pairs 112,636,964 to 112,657,592 on chromosome 4 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 4q25, which is the long (q) arm of chromosome 4 at position 25
  • ALAZS
  • HDCMA18P
  • PIP7S