ZNRF1
LOCUS ID84937
GENE_SYMBOLZNRF1
GENE NAMEzinc and ring finger 1, E3 ubiquitin protein ligase
SYNONYMNSNIN283
CHROMOSOME16
HOMOLOGENE ID41858
microRNAsNANA
GENE SUMMARY
This gene encodes an E3 ubiquitin-protein ligase that plays a role in neural-cell differentiation. Overexpression of this gene causes neurite-like elongation. The encoded protein contains both a zinc finger and a RING finger motif and is localized in the endosome/lysosome compartment, indicating that it may be involved in ubiquitin-mediated protein modification, and in syptic vessicle membranes in neurons. [provided by RefSeq, Feb 2012]

OBSERVATIONS

Complication Evidence PMID
Retinopathy1. Common variants in or near ZNRF1, COLEC12, SCYL1BP1 and API5 are associated with diabetic retinopathy in Chinese patients with type 2 diabetes. We determined that rs17684886 and rs599019 are associated with diabetic retinopathy and that rs6427247 and rs899036 are associated with severe diabetic retinopathy in Chinese patients with type 2 diabetes.25819896