abx028514

antibody from Abbexa

Targeting: GUCA1A C6orf131, COD3, CORD14, dJ139D8.6, GCAP, GCAP1, GUCA, GUCA1

No application information provided.

Antibody Data

Product number

abx028514

Provider

Abbexa

Product name

Guanylyl Cyclase-Activating Protein 1 (GUCA1A) Antibody

Antibody type

Polyclonal

Description

Guanylate cyclase-activating protein is a l Ca (2+) binding protein that upregulates synthesis of cGMP in photoreceptors. The known mammalian GCAPs are more than 90% similar, consisting of 201 to 205 amino acids, and containing 3 identically conserved Ca (2+) binding sites. The GUCA1A gene, also termed GCAP1, is transcribed into a single 1.7-kb mRNA species detectable only in the retina. In a 4-generation British family with typical clinical features of autosomal dominant cone dystrophy a tyr99-to-cys mutation) in the GUCA1A gene has been identified. Another family with a pro50-to-leu mutation in GUCA1A demonstrated phenotypic variability ranging from mild photophobia to rod-cone dystrophy. The mutant protein could activate guanylate cyclase 1 (GUCY2D) and displayed similar calcium sensitivity to wildtype protein. However, there was a marked increase in the susceptibility to protease degradation and a reduction in the thermal stability of the pro50-to-leu mutation, which may depress cellular concentration and thereby contribute to retinal cell mortality.

Reactivity

Human

Host

Rabbit

Conjugate

Unconjugated

Isotype

IgG

Vial size

80 µl

Storage

Aliquot and store at -20°C. Avoid repeated freeze/thaw cycles.