Protein Name LEM domain containing 3
Organism Homo sapiens
Gene ID 23592
Gene Symbol

LEMD3

UniProt Q9Y2U8 (MAN1_HUMAN), A0A024RBB9 (A0A024RBB9_HUMAN)
Relationships Total Number of functionally related compound(s) : 44
Total Number of Articles : 31
Description

LEM domain containing 3

Gene Summary

This locus encodes a LEM domain-containing protein. The encoded protein functions to antagonize transforming growth factor-beta signaling at the inner nuclear membrane. Two transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.[provided by RefSeq, Nov 2009]

synonyms
  • inner nuclear membrane protein Man1
  • LEM domain-containing protein 3
  • LEMD3/MKX fusion
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Properties