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

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

rs137853298 in SYN3;TIMP3 gene and FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY PMID 8981947 1997 Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance.

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 Subsequently, two separate mutations in TIMP3 were found in affected members of two unrelated SFD pedigrees (Tyr168Cys and Ser181Cys).

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 8728699 1996 We now report the occurrence of the Tyr168Cys mutation in an SFD patient of Austrian descent and show that this mutation found earlier in an American SFD family arose independently.

rs12165603 in SYN3;TIMP3 gene and High density lipoprotein measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs12165603 in SYN3;TIMP3 gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs1065314 in SYN3;TIMP3 gene and Triglycerides measurement PMID 31170924 2019 Identification of female-specific genetic variants for metabolic syndrome and its component traits to improve the prediction of metabolic syndrome in females.