AQP1
LOCUS ID358
GENE_SYMBOLAQP1
GENE NAMEaquaporin 1 (Colton blood group)
SYNONYMNSCO, CHIP28, AQP-CHIP
CHROMOSOME7
HOMOLOGENE ID68051
microRNAsNANA
GENE SUMMARY
Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This gene encodes an aquaporin which functions as a molecular water channel protein. It is a homotetramer with 6 bilayer spanning domains and N-glycosylation sites. The protein physically resembles channel proteins and is abundant in erythrocytes and renal tubes. The gene encoding this aquaporin is a possible candidate for disorders involving imbalance in ocular fluid movement. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]

OBSERVATIONS

Complication Evidence PMID
Retinopathy1. Glial fibrillary acidic protein and AQP1 showed an approximate 2-fold increase, whereas AQP4 showed an approximate 25-fold increase in diabetics with DR versus controls.26087356