NRL gene

neural retina leucine zipper

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

From NCBI Gene:

This gene encodes a basic motif-leucine zipper transcription factor of the Maf subfamily. The encoded protein is conserved among vertebrates and is a critical intrinsic regulator of photoceptor development and function. Mutations in this gene have been associated with retinitis pigmentosa and retinal degenerative diseases. [provided by RefSeq, Jul 2008]

From UniProt:

Transcription factor which regulates the expression of several rod-specific genes, in cluding RHO and PDE6B.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Retinitis pigmentosa 27

From UniProt:

Retinal degeneration autosomal recessive clumped pigment type (RDCP): A retinopathy characterized by night blindness since early childhood, consistent with a severe reduction in rod function. Color vision is normal although there is a relatively enhanced function of short-wavelength-sensitive cones in the macula. Signs of retinal degeneration and clusters of clumped pigment deposits in the peripheral fundus at the level of the retinal pigment epithelium are present. [MIM:162080]

Retinitis pigmentosa 27 (RP27): 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:613750]

Cytogenetic Location: 14q11.1-q11.2, which is the long (q) arm of chromosome 14 between positions 11.1 and 11.2

Molecular Location: base pairs 24,078,693 to 24,114,924 on chromosome 14 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 14q11.1-q11.2, which is the long (q) arm of chromosome 14 between positions 11.1 and 11.2
  • D14S46E
  • NRL-MAF
  • RP27