Biology:BICD2

From HandWiki
Short description: Protein-coding gene in the species Homo sapiens

A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example


Bicaudal D cargo adaptor 2 is a protein that in humans is encoded by the BICD2 gene.[1][2]

This gene is one of two human homologs of Drosophila bicaudal-D and a member of the Bicoid family. It has been implicated in dynein-mediated, minus end-directed motility along microtubules. It has also been reported to be a phosphorylation target of NIMA related kinase 8. Two alternative splice variants have been described.[2]

Mutations in BICD2 are associated with spinal muscular atrophy with lower extremity predominance type 2A and type 2B.

References

  1. ↑ "Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Res 5 (3): 169–76. Dec 1998. doi:10.1093/dnares/5.3.169. PMID 9734811. 
  2. ↑ 2.0 2.1 "Entrez Gene: BICD2 bicaudal D homolog 2 (Drosophila)". https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=23299. 

Further reading