TIMP1
LOCUS ID7076
GENE_SYMBOLTIMP1
GENE NAMETIMP metallopeptidase inhibitor 1
SYNONYMNSEPA, EPO, HCI, CLGI, TIMP
CHROMOSOMEX
HOMOLOGENE ID36321
microRNAsNANA
GENE SUMMARY
This gene belongs to the TIMP gene family. The proteins encoded by this gene family are natural inhibitors of the matrix metalloproteinases (MMPs), a group of peptidases involved in degradation of the extracellular matrix. In addition to its inhibitory role against most of the known MMPs, the encoded protein is able to promote cell proliferation in a wide range of cell types, and may also have an anti-apoptotic function. Transcription of this gene is highly inducible in response to many cytokines and hormones. In addition, the expression from some but not all inactive X chromosomes suggests that this gene inactivation is polymorphic in human females. This gene is located within intron 6 of the synapsin I gene and is transcribed in the opposite direction. [provided by RefSeq, Jul 2008]

OBSERVATIONS

Complication Evidence PMID
Retinopathy1. Sequence variation in EPO is associated with the risk of DR independent of duration of DM, degree of glycemic control, and nephropathy. Identifying EPO genetic markers for high risk of developing DR could lead to the possibility of developing novel treatments or preventive therapies.20065225