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 (By similarity). Involved in correct maturation of megakaryocytes and especially important for proplatelet extension.

From NCBI Gene:

  • Platelet-type bleeding disorder 20

From UniProt:

Bleeding disorder, platelet-type 20 (BDPLT20): A disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after tooth extraction, and menorrhagia. BDPLT20 is characterized by moderate thrombocytopenia and platelet secretion defects. Inheritance is autosomal dominant. [MIM:616913]

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