Gene
LRMDA
leucine rich melanocyte differentiation associated
- HGNC 23405↗(opens in a new tab)
- Ensembl gene ENSG00000148655↗(opens in a new tab)
- NCBI Gene 83938↗(opens in a new tab)
Summary
- Cytogenetic location
- 10q22.2-q22.3
- Coordinates
- Chromosome 10: 75,431,624–76,560,168 (GRCh38)
- Exons
- 7 exons across 1,128.5 kb
- Protein
- 226 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- CDA017, OCA7
- Previous symbols
- C10orf11
- MANE Select transcript
- ENST00000611255.5NM_001305581.2
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Oculocutaneous Albinism
- Autosomal recessive
- 3 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 LRMDA is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
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 3.7 kb of the gene's 1,128.5 kb; 681 of those bases code for the protein.
How a genome test reads LRMDA
2
positions in LRMDA 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 1,128.5 kb of LRMDA, introns included, not only the 3.7 kb of exons.
Genes linked to the same conditions
- DCTdopachrome tautomeraseShares 1 condition
- OCA2OCA2 melanosomal transmembrane proteinShares 1 condition
- SLC24A5solute carrier family 24 member 5Shares 1 condition
- SLC45A2solute carrier family 45 member 2Shares 1 condition
- TYRtyrosinaseShares 1 condition
- TYRP1tyrosinase related protein 1Shares 1 condition
Traits linked to LRMDA
The Human Phenotype Ontology lists these as features of the rare conditions LRMDA can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
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
Dante Labs. (n.d.). LRMDA gene: leucine rich melanocyte differentiation associated. Retrieved 16 October 2026, from https://dantelabs.com/genes/lrmda
Dante Labs. LRMDA gene: leucine rich melanocyte differentiation associated [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/lrmda
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