GUCA1B gene

guanylate cyclase activator 1B

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is a calcium-binding protein that activates photoreceptor guanylate cyclases. This gene may have arisen due to a gene duplication event since there is a highly similar gene clustered with it on chromosome 6. Mutations in this gene can cause a form of retinitis pigmentosa. [provided by RefSeq, Nov 2009]

From UniProt:

Stimulates guanylyl cyclase 1 (GC1) and GC2 when free calcium ions concentration is low, and GC1 and GC2 when free calcium ions concentration is elevated. This Ca(2+)-sensitive regulation of GC is a key event in recovery of the dark state of rod photoreceptors following light exposure.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Retinitis pigmentosa 48

From UniProt:

Retinitis pigmentosa 48 (RP48): A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. [MIM:613827]

Cytogenetic Location: 6p21.1, which is the short (p) arm of chromosome 6 at position 21.1

Molecular Location: base pairs 42,183,284 to 42,194,956 on chromosome 6 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 6p21.1, which is the short (p) arm of chromosome 6 at position 21.1
  • GCAP2
  • GUCA2
  • RP48