sterile alpha motif domain-containing protein 9; SAM domain-containing protein 9 (SAMD9, C7orf5, DRIF1, KIAA2004, OEF1)

Structure

contains 1 SAM (sterile alpha motif) domain

Compartment

cytoplasm (probable)

Expression

• widely expressed. very low levels in skeletal muscle
• not detected in fetal brain
• down-regulated in aggressive fibromatosis, as well as in breast & colon cancers

Pathology

• defects in SAMD9 are the cause of normophosphatemic familial tumoral calcinosis

More general terms

• sterile alpha motif domain-containing protein (SAMD)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=54809
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:54809
• OMIM: https://mirror.omim.org/entry/610455
• OMIM: https://mirror.omim.org/entry/610456
• UniProt: http://www.uniprot.org/uniprot/Q5K651.html