GPR179 gene

G protein-coupled receptor 179

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

From NCBI Gene:

This gene encodes a member of the glutamate receptor subfamily of G protein-coupled receptors. The encoded protein has an EGF-like calcium binding domain and a seven transmembrane domain in the N-terminal region of the protein. Mutations in this gene are associated with congenital stationary night blindness type 1E. [provided by RefSeq, Apr 2012]

From UniProt:

Orphan receptor, involved in vision. Required for signal transduction through retinal depolarizing bipolar cells.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Congenital stationary night blindness, type 1E

From UniProt:

Night blindness, congenital stationary, 1E (CSNB1E): An autosomal recessive, non-progressive retinal disorder characterized by impaired night vision, absence of the electroretinogram (ERG) b-wave, and variable degrees of involvement of other visual functions. Affected individuals have an ERG waveform that lacks the b-wave because of failure to transmit the photoreceptor signal through the retinal depolarizing bipolar cells. [MIM:614565]

Cytogenetic Location: 17q21.1, which is the long (q) arm of chromosome 17 at position 21.1

Molecular Location: base pairs 38,325,610 to 38,343,810 on chromosome 17 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 17q21.1, which is the long (q) arm of chromosome 17 at position 21.1
  • CSNB1E
  • GPR158L
  • GPR158L1