Gene: [17p133/PFN1] profilin 1 (actin monomer-binding protein);


FUN

PFN, a protein with MM 12-15 kD, binds actin monomers and probably serves as a reversible depot of free monomers. PFN in complex with actin is referred to as profilactin."

HIS

About possible pathogenetic relationship between the PFN1 gene and Miller-Dieker lissencephaly (Kwiatkowski-1990), see GEM:17p133/PAFAH1B1[:ASS]."

REL

GEM:01^/PFN2.

REF

LOC,MOL "Kwiatkowski DJ &: AJHG, 46, N3, 559-567, 1990
LOC,SEQ "Kwiatkowski DJ, Bruns: JBC, 263, N12, 5910-5915, 1988

SWI

 SWISSPROT: P07737

KEY

cysk

CLA

coding, basic

LOC

17 p13.3

MIM

 MIM: 176610