GDF.af.5

(redirected from SYNS2)

GDF.af.5

A gene on chromosome 20q11.2 that encodes a member of the bone morphogenetic protein (BMP) family, which regulates cell growth and differentiation in both embryonic and adult bone and cartilage.

Molecular pathology
GDF5 mutations are associated acromesomelic dysplasia, Hunter-Thompson type, brachydactyly, type C, and chondrodysplasia, Grebe type.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
References in periodicals archive ?
Moreover, GDF5 gene mutation are also involved in angel shaped phalangeal dysplasia (ASPED), proximal phalangism (SYM1), multiple synostoses syndrome (SYNS1 and SYNS2) and congenital vertical talus (CVT).17-21
Multiple synostosis type 2 (SYNS2) maps to 20q11.2 and is caused by a missense mutation in the growth/differentiation factor 5 (GDF5).