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Gene

MLPH

melanophilin

Summary

Cytogenetic location
2q37.3
Coordinates
Chromosome 2: 237,487,251–237,555,322 (GRCh38)
Exons
16 exons across 68.1 kb
Protein
600 amino acids
Inheritance
Autosomal recessive
Also known as
l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3, SLAC2-A
MANE Select transcript
ENST00000264605.8NM_024101.7
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 report relevant to this gene

  • Griscelli Syndrome

    • Autosomal recessive

      Partial albinism with silvery hair; type 1 (MYO5A) involves neurological problems, type 2 (RAB27A) causes life-threatening immune overactivation (HLH), and type 3 (MLPH) affects pigmentation only.

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

      Type 2 needs prompt specialist care and usually stem cell transplantation.

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 MLPH is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 2, with a bracket where MLPH sits. MLPH and 9 genes near it on chromosome 2, from 237,021,287 to 238,021,286.Chromosome 22q37.3p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.3237.2 Mb237.4 Mb237.6 Mb237.8 Mb238 MbCOPS8: 237,085,877–237,103,208, forward strandCOPS8COL6A3: 237,324,003–237,414,409, reverse strandCOL6A3MLPH: 237,487,251–237,555,322, forward strandMLPHPRLH: 237,559,555–237,567,288, forward strandPRLHRAB17: 237,574,105–237,601,638, reverse strandRAB17LRRFIP1: 237,627,550–237,813,682, forward strandLRRFIP1RBM44: 237,798,389–237,842,808, forward strandRBM44RAMP1: 237,858,893–237,923,438, forward strandRAMP1UBE2F: 237,966,827–238,051,730, forward strandUBE2FUBE2F-SCLY: 237,967,014–238,099,412, forward strandUBE2F-SCLYDiagram of MLPH: 16 exons on the forward strand of chromosome 2Exon 2: 2 known disease-causing sitesExon 6: 1 known disease-causing siteExon 8: 2 known disease-causing sitesExon 12: 1 known disease-causing siteExon 1: 237,487,251–237,487,437, 187 basesExon 2: 237,493,403–237,493,536, 134 basesExon 3: 237,510,574–237,510,795, 222 basesExon 4: 237,510,989–237,511,101, 113 basesExon 5: 237,518,539–237,518,648, 110 basesExon 6: 237,519,910–237,520,029, 120 basesExon 7: 237,525,601–237,525,805, 205 basesExon 8: 237,527,377–237,527,516, 140 basesExon 9: 237,534,564–237,534,647, 84 basesExon 10: 237,540,348–237,540,533, 186 basesExon 11: 237,540,802–237,540,957, 156 basesExon 12: 237,542,567–237,542,659, 93 basesExon 13: 237,546,606–237,546,683, 78 basesExon 14: 237,549,221–237,549,278, 58 basesExon 15: 237,552,337–237,552,437, 101 basesExon 16: 237,553,566–237,555,322, 1,757 bases12468101214165′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 3.7 kb of the gene's 68.1 kb; 1,803 of those bases code for the protein.

How a genome test reads MLPH

7

positions in MLPH 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 68.1 kb of MLPH, introns included, not only the 3.7 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.). MLPH gene: melanophilin. Retrieved 17 October 2026, from https://dantelabs.com/genes/mlph

Vancouver

Dante Labs. MLPH gene: melanophilin [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/mlph

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