Gene: TIMP3
Alternate names for this Gene: HSMRK222|K222|K222TA2|SFD
Gene Summary: This gene belongs to the TIMP gene family. The proteins encoded by this gene family are inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix (ECM). Expression of this gene is induced in response to mitogenic stimulation and this netrin domain-containing protein is localized to the ECM. Mutations in this gene have been associated with the autosomal dominant disorder Sorsby's fundus dystrophy.
Gene is located in Chromosome: 22
Location in Chromosome : 22q12.3
Description of this Gene: TIMP metallopeptidase inhibitor 3
Type of Gene: protein-coding
Gene: SYN3
Alternate names for this Gene: -
Gene Summary: This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. The protein encoded by this gene shares the synapsin family domain model, with domains A, C, and E exhibiting the highest degree of conservation. The protein contains a unique domain J, located between domains C and E. Based on this gene's localization to 22q12.3, a possible schizophrenia susceptibility locus, and the established neurobiological roles of the synapsins, this family member may represent a candidate gene for schizophrenia. The TIMP3 gene is located within an intron of this gene and is transcribed in the opposite direction. Alternative splicing of this gene results in multiple splice variants that encode different isoforms.
Gene is located in Chromosome: 22
Location in Chromosome : 22q12.3
Description of this Gene: synapsin III
Type of Gene: protein-coding
rs137853300 in
TIMP3;SYN3 gene and
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
PMID 8634721 1995 A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features.
PMID 8728699 1996 More recently, two additional SFD related mutations, Ser156Cys and Gly167Cys, have provided further confirmation that heterozygous mutations in TIMP3 are causally responsible for the SFD phenotype.
PMID 7894485 1994 Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy.
PMID 7550309 1995 Night blindness in Sorsby's fundus dystrophy reversed by vitamin A.
PMID 8981947 1997 Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance.
PMID 8728699 1996 A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy.
PMID 8634721 1995 A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features.
PMID 8981947 1997 We identified a novel heterozygous Gly166Cys mutation in TIMP3 in all affected individuals and provide strong evidence for an autosomal dominant inheritance of the SFD phenotype in this family.