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Gene

MAMLD1

mastermind like domain containing 1

Summary

Cytogenetic location
Xq28
Coordinates
Chromosome X: 150,363,317–150,514,173 (GRCh38)
Exons
8 exons across 150.9 kb
Protein
774 amino acids
Inheritance
X-linked recessive
Also known as
CG1, F18
Previous symbols
CXorf6
MANE Select transcript
ENST00000370401.7NM_005491.5
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

  • Hereditary Hypospadias

    • Hypospadias 2, X-linked (MAMLD1)X-linked recessive

      An X-linked form of hypospadias caused by variants in MAMLD1.

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

      Identifying the cause clarifies recurrence risk for future children.

Inheritance

X-linked recessive
The change is on the X chromosome, so one copy affects males, who have one X, while females with one are usually carriers. A carrier mother passes it on to each child with a one-in-two chance.

How MAMLD1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome X, with a bracket where MAMLD1 sits. MAMLD1 and 4 genes near it on chromosome X, from 149,938,745 to 150,938,744.Chromosome XXq28p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q28150 Mb150.2 Mb150.4 Mb150.6 Mb150.8 MbEOLA2: 149,921,940–149,938,881, reverse strandEOLA2MAMLD1: 150,363,317–150,514,173, forward strandMAMLD1MTM1: 150,547,904–150,673,322, forward strandMTM1MTMR1: 150,692,971–150,765,165, forward strandMTMR1CD99L2: 150,766,335–150,898,816, reverse strandCD99L2Diagram of MAMLD1: 8 exons on the forward strand of chromosome XExon 4: 1 known disease-causing siteExon 1: 150,363,317–150,363,530, 214 basesExon 2: 150,445,454–150,445,612, 159 basesExon 3: 150,462,772–150,462,846, 75 basesExon 4: 150,469,745–150,471,490, 1,746 basesExon 5: 150,473,680–150,473,802, 123 basesExon 6: 150,503,274–150,503,517, 244 basesExon 7: 150,509,962–150,510,046, 85 basesExon 8: 150,512,004–150,514,173, 2,170 bases123456785′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 4.8 kb of the gene's 150.9 kb; 2,325 of those bases code for the protein.

How a genome test reads MAMLD1

1

position in MAMLD1 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 150.9 kb of MAMLD1, introns included, not only the 4.8 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.). MAMLD1 gene: mastermind like domain containing 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/mamld1

Vancouver

Dante Labs. MAMLD1 gene: mastermind like domain containing 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/mamld1

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