EFEMP2

(redirected from MBP1)

EFEMP2

A gene on chromosome 11q13.1 that encodes an extracellular matrix protein with multiple epidermal growth factor (EGF) domains, which is required for elastic fibre formation and connective tissue development.

Molecular pathology
EFEMP2 mutations cause a form of autosomal recessive cutis laxa syndrome.
References in periodicals archive ?
Thakker, "SEDLIN forms homodimers: characterisation of SEDLIN mutations and their interactions with transcription factors MBP1, PITX1 and SF1," PloS one, vol.
Ward (703) 527-7315; wardgw@erols.com Navy Lithographer Assn: Julian Dracon (303) 795-5350 Navy Nuclear Weapons Assn: Frank Kelly (843) 378-4026; LindaK0001@aol.com Orphans of the Pacific, USS APL-33, MBP1 & ServPac Unit #4: Robbia Roberts (352) 787-0968; harirobb@webtv.net PATSU 1-9: Walter Lastoskie (727) 343-2384 Samuel Moore DD747: Donald W.