Bean1

Bean1

BEAN1

BEAN1 image from New Medical Terms

BEAN

NEUROLOGY

Definition The gene on chromosome 16q21 that encodes brain expressed—associated with NEDD4—1 (OMIM: 612051, UniProtKB: Q3B7T3), a protein which interacts with NEDD4, a developmentally regulated ubiquitin-protein ligase highly expressed in embryonic tissues.

This protein product and related proteins have PY motifs that bind to NEDD4’s WW domains. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. 

Molecular pathology Defects of BEAN1 in the form of intronic insertions of >100 copies of pentanucleotide repeats including a (TGGAA)n sequence, cause spinocerebellar ataxia type 31 (OMIM:117210).

Synonyms Brain expressed—associated with NEDD4—1, BEAN, brain-expressed protein associating with Nedd4 homolog, SCA31 

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=BEAN1

http://www.uniprot.org/uniprot/Q3B7T3

 

By |2018-08-19T13:04:14+00:00July 24th, 2018|Classic Medicine Category, Molecular Medicine Category|Comments Off on Bean1

About the Author:

Born in Ohio, raised in Jersey (the state, not the island), med school in Spain (Tenerife) and Berlin (West) at Klinikum Steglitz. I’ve had undistinguished career in pathology; I’m not currently practicing, largely because I must get this albatross from my neck. I spent some time practicing in the UK. I’m desperate to get back into pathology, but have accepted that of the 7 billion people on the planet, I’m the only one insane enough to write a medical dictionary–which may explain why a new one hasn’t been written in over 75 years.