MBP1 | definition of MBP1 by Medical dictionary
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.
EFEMP2 mutations cause a form of autosomal recessive cutis laxa syndrome.
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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.
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