SLFN14 gene

schlafen family member 14

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

From NCBI Gene:

The protein encoded by this gene plays an important role in platelet formation and function. Defects in this gene are a cause of thrombocytopenia with excessive bleeding. [provided by RefSeq, Jul 2016]

From UniProt:

Protein SLFN14: Shows no ribosome-associated and endoribonuclease activities.

C-terminally truncated SLFN14 endoribonuclease: Displays polysome-associated endoribonuclease activity towards mRNAs and rRNAs (PubMed:25996083). May play a role in RNA surveillance pathways by recognizing stalled ribosomes and triggering endonucleolytic cleavage of aberrant mRNAs (Probable). Cleaves different types of rRNAs and mRNAs in a magnesium- and manganese-dependent and ATP-independent manner.

From NCBI Gene:

  • Platelet-type bleeding disorder 20

From UniProt:

Defects in SLFN14 may be a cause of autosomal dominant thrombocytopenia, a disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting.

Cytogenetic Location: 17q12, which is the long (q) arm of chromosome 17 at position 12

Molecular Location: base pairs 35,545,732 to 35,560,841 on chromosome 17 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 17q12, which is the long (q) arm of chromosome 17 at position 12
  • BDPLT20