kelch-like protein 40; kelch repeat & BTB domain-containing protein 5; sarcosynapsin (KLHL40, KBTBD5, SRYP)

Function

• required for skeletal muscle development

Structure

• contains 1 BACK domain (BTB/Kelch associated domain)
• contains 1 BTB domain (POZ domain)
• contains 5 Kelch repeats

Compartment

• cytoplasm, myofibril, sarcomere, A band

Alternative splicing

named isoforms=2

Expression

• highly expressed in fetal (19, 23 & 31 weeksof gestation) & adult skeletal muscle
  • expression levels tend to be higher in fetal compared to postnatal muscles (at protein level)
• also expressed in fetal & adult heart

Pathology

• defects in KLHL40 are associated with nemaline myopathy 8

More general terms

• kelch-like protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=131377
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:131377
• OMIM: https://mirror.omim.org/entry/615340
• OMIM: https://mirror.omim.org/entry/615348
• UniProt: http://www.uniprot.org/uniprot/Q2TBA0.html