Skip to content
Use your HSA or FSA funds
Sequence your genome (opens in a new tab)

Gene

RLBP1

retinaldehyde binding protein 1

Summary

Cytogenetic location
15q26.1
Coordinates
Chromosome 15: 89,209,869–89,221,579 (GRCh38)
Exons
9 exons across 11.7 kb
Protein
317 amino acids
Also known as
CRALBP
MANE Select transcript
ENST00000268125.10NM_000326.5
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated reports relevant to this gene

  • Congenital Stationary Night Blindness

    • Fundus AlbipunctatusAutosomal recessive

      A form of stationary night blindness, usually caused by changes in both copies of RDH5, with many small white dots in the retina and slow adaptation to the dark.

      • 1 GenCC submitter rates it definitive or strong
      Actionability

      Knowing the cause helps avoid misdiagnosis as a progressive retinal dystrophy.

  • Hereditary Macular Dystrophies

    • PRPH2-Related RetinopathyAutosomal dominant

      A retinal condition caused by changes in PRPH2, which can cause pattern dystrophy, adult vitelliform dystrophy or wider retinal degeneration, even within one family.

      • 1 GenCC submitter rates it definitive or strong
      Actionability

      Regular eye examinations help detect complications and support planning.

  • Retinitis Pigmentosa

    • RLBP1-Related RetinopathyAutosomal recessive

      A retinal dystrophy caused by changes in the RLBP1 gene.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong

How RLBP1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 15, with a bracket where RLBP1 sits. RLBP1 and 13 genes near it on chromosome 15, from 88,715,724 to 89,715,723.Chromosome 1515q26.1p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q14q15.1q15.2q15.3q21.1q21.2q21.3q22.1q22.2q22.31q22.32q22.33q23q24.1q24.2q24.3q25.1q25.2q25.3q26.1q26.2q26.388.8 Mb89 Mb89.2 Mb89.4 Mb89.6 MbACAN: 88,803,427–88,875,353, forward strandACANHAPLN3: 88,877,289–88,895,597, reverse strandHAPLN3MFGE8: 88,898,683–88,913,579, reverse strandMFGE8ABHD2: 89,087,459–89,202,355, forward strandABHD2RLBP1: 89,209,869–89,221,579, reverse strandRLBP1FANCI: 89,243,854–89,318,091, forward strandFANCIPOLG: 89,305,198–89,334,972, reverse strandPOLGPOLGARF: 89,330,208–89,333,809, reverse strandPOLGARFRHCG: 89,451,995–89,496,815, reverse strandRHCGTICRR: 89,575,455–89,631,056, forward strandTICRRKIF7: 89,608,789–89,663,098, reverse strandKIF7PLIN1: 89,664,365–89,679,466, reverse strandPLIN1PEX11A: 89,677,764–89,690,786, reverse strandPEX11AWDR93: 89,690,810–89,743,639, forward strandWDR93Diagram of RLBP1: 9 exons on the reverse strand of chromosome 15Exon 9: 1 known disease-causing siteExon 8: 2 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 6: 5 known disease-causing sitesExon 5: 7 known disease-causing sitesExon 4: 2 known disease-causing sitesExon 9: 89,209,869–89,210,443, 575 basesExon 8: 89,210,699–89,210,809, 111 basesExon 7: 89,211,743–89,211,901, 159 basesExon 6: 89,215,060–89,215,238, 179 basesExon 5: 89,217,120–89,217,324, 205 basesExon 4: 89,218,565–89,218,693, 129 basesExon 3: 89,218,964–89,219,075, 112 basesExon 2: 89,219,737–89,219,859, 123 basesExon 1: 89,221,535–89,221,579, 45 bases9876543215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 1.6 kb of the gene's 11.7 kb; 954 of those bases code for the protein.

Sequencing RLBP1

24

positions in RLBP1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 11.7 kb of RLBP1, introns included, not only the 1.6 kb of exons.

Genes linked to the same conditions

Traits linked to RLBP1

The Human Phenotype Ontology lists these as features of the rare conditions RLBP1 can cause. Each trait's page lists the other genes linked to it.

Abnormality of the eye

Show 48 more traits

External links

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-17: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.17-8666dff2.

Cite this page

APA

Dante Labs. (n.d.). RLBP1 gene: retinaldehyde binding protein 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/rlbp1

Vancouver

Dante Labs. RLBP1 gene: retinaldehyde binding protein 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/rlbp1

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test