Rabbit anti-Human GUCY2D Polyclonal Antibody

Uniprot Id

Q02846

Target Species

Human

Target Name

GUCY2D

Target Full Name

Retinal guanylyl cyclase 1

Target Function

Catalyzes the synthesis of cyclic GMP (cGMP) in rods and cones of photoreceptors. Plays an essential role in phototransduction, by mediating cGMP replenishment. May also participate in the trafficking of membrane-asociated proteins to the photoreceptor outer segment membrane.

Target Involvement

Leber congenital amaurosis 1 (LCA1); Cone-rod dystrophy 6 (CORD6)

Target Subcellular Location

Photoreceptor outer segment membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-pass type I membrane protein.

Target Protein Families

Adenylyl cyclase class-4/guanylyl cyclase family

Target Tissue Specificity

Retina.

Target Synonyms

LCA; CACD; CG-E; CYGD; LCA1; RCD2; CACD1; CORD5; CORD6; GUC2D; ROSGC; retGC; CSNB1I; GUC1A4; RETGC-1; ROS-GC1; GUCY2D

Target Background

This gene encodes a retina-specific guanylate cyclase, which is a member of the membrane guanylyl cyclase family. Like other membrane guanylyl cyclases, this enzyme has a hydrophobic amino-terminal signal sequence followed by a large extracellular domain, a single membrane spanning domain, a kinase homology domain, and a guanylyl cyclase catalytic domain. In contrast to other membrane guanylyl cyclases, this enzyme is not activated by natriuretic peptides. Mutations in this gene result in Leber congenital amaurosis and cone-rod dystrophy-6 diseases.