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Gene

CRB1

crumbs cell polarity complex component 1

Summary

Cytogenetic location
1q31.3
Coordinates
Chromosome 1: 197,268,252–197,478,455 (GRCh38)
Exons
12 exons across 210.2 kb
Protein
1,406 amino acids
Inheritance
Autosomal recessive
Also known as
LCA8
Previous symbols
RP12
MANE Select transcript
ENST00000367400.8NM_201253.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Leber Congenital Amaurosis & RPE65-Related Retinopathy

    • Leber Congenital AmaurosisAutosomal recessive

      A group of inherited retinal dystrophies, caused by changes in genes such as CEP290, GUCY2D, CRB1, RPE65 and AIPL1, that cause severe vision loss, nystagmus and poor pupil responses in infancy.

      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Confirming the gene can determine eligibility for gene-specific treatments and clinical trials, and informs family counselling.

Broader groupings

  • Retinitis Pigmentosa

    • One of 77 genes linked to it

      A group of inherited retinal dystrophies with progressive loss of rod and then cone photoreceptors, causing night blindness and gradual loss of peripheral vision.

      • 2 GenCC submitters rate it definitive or strong

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How CRB1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 1, with a bracket where CRB1 sits. CRB1 and 7 genes near it on chromosome 1, from 196,873,354 to 197,873,353.Chromosome 11q31.3p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q44197 Mb197.2 Mb197.4 Mb197.6 Mb197.8 MbCFHR4: 196,888,014–196,920,294, forward strandCFHR4CFHR2: 196,943,731–196,964,408, forward strandCFHR2CFHR5: 196,975,010–197,009,678, forward strandCFHR5F13B: 197,038,737–197,067,267, reverse strandF13BASPM: 197,084,121–197,146,699, reverse strandASPMZBTB41: 197,153,682–197,201,449, reverse strandZBTB41CRB1: 197,268,252–197,478,455, forward strandCRB1DENND1B: 197,504,748–197,775,706, reverse strandDENND1BDiagram of CRB1: 12 exons on the forward strand of chromosome 1Exon 1: 7 known disease-causing sitesExon 2: 59 known disease-causing sitesExon 3: 18 known disease-causing sitesExon 4: 11 known disease-causing sitesExon 5: 16 known disease-causing sitesExon 6: 96 known disease-causing sitesExon 7: 71 known disease-causing sitesExon 8: 21 known disease-causing sitesExon 9: 96 known disease-causing sitesExon 10: 14 known disease-causing sitesExon 11: 23 known disease-causing sitesExon 12: 14 known disease-causing sitesExon 1: 197,268,252–197,268,482, 231 basesExon 2: 197,328,422–197,329,003, 582 basesExon 3: 197,344,281–197,344,476, 196 basesExon 4: 197,347,340–197,347,479, 140 basesExon 5: 197,356,831–197,357,013, 183 basesExon 6: 197,421,000–197,421,956, 957 basesExon 7: 197,427,454–197,428,001, 548 basesExon 8: 197,429,449–197,429,614, 166 basesExon 9: 197,434,706–197,435,612, 907 basesExon 10: 197,438,547–197,438,675, 129 basesExon 11: 197,442,166–197,442,292, 127 basesExon 12: 197,477,664–197,478,455, 792 bases1246810125′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 5 kb of the gene's 210.2 kb; 4,221 of those bases code for the protein.

How a genome test reads CRB1

481

positions in CRB1 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 210.2 kb of CRB1, introns included, not only the 5 kb of exons.

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 2026-10-16: 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 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). CRB1 gene: crumbs cell polarity complex component 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/crb1

Vancouver

Dante Labs. CRB1 gene: crumbs cell polarity complex component 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/crb1

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