Skip to content
Use your HSA or FSA funds

Gene

NSDHL

NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL

Summary

Cytogenetic location
Xq28
Coordinates
Chromosome X: 152,831,063–152,869,729 (GRCh38)
Exons
8 exons across 38.7 kb
Protein
373 amino acids
Inheritance
X-linked dominant
Also known as
XAP104, H105e3, SDR31E1
MANE Select transcript
ENST00000370274.8NM_015922.3
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

  • Inherited Ichthyoses

    • CHILD syndromeX-linked dominant

      One-sided ichthyosis-like skin inflammation with limb defects on the same side, caused by NSDHL variants; seen almost only in females.

      • 4 GenCC submitters rate it definitive or strong

Broader groupings

  • Intellectual Disability

    • One of 233 genes linked to it

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

Inheritance

X-linked dominant
The change is on the X chromosome, and one copy is enough. A mother who has it passes it on to each child with a one-in-two chance; a father, to all of his daughters and none of his sons.

How NSDHL 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 NSDHL sits. NSDHL and 19 genes near it on chromosome X, from 152,350,396 to 153,350,395.Chromosome XXq28p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q28152.4 Mb152.6 Mb152.8 Mb153 Mb153.2 MbGABRA3: 152,166,042–152,451,425, reverse strandGABRA3GABRQ: 152,637,895–152,684,285, forward strandGABRQMAGEA3: 152,698,767–152,702,347, forward strandCSAG2: 152,708,261–152,721,661, reverse strandMAGEA2B: 152,714,580–152,718,612, forward strandCSAG1: 152,727,484–152,733,782, reverse strandMAGEA12: 152,733,757–152,737,679, forward strandMAGEA12MAGEA2: 152,749,857–152,754,145, reverse strandMAGEA2CSAG3: 152,753,921–152,760,222, forward strandCSAG3MAGEA6: 152,766,136–152,769,716, reverse strandMAGEA6CETN2: 152,825,867–152,830,782, reverse strandCETN2NSDHL: 152,831,063–152,869,729, forward strandNSDHLZNF185: 152,896,695–152,973,511, forward strandZNF185PNMA5: 152,988,824–152,994,116, reverse strandPNMA5PNMA3: 153,056,409–153,060,467, forward strandPNMA3PNMA6A: 153,072,454–153,075,019, forward strandPNMA6AMAGEA1: 153,179,284–153,183,880, forward strandMAGEA1PWWP4: 153,266,152–153,279,145, forward strandPWWP4PNMA6F: 153,317,680–153,321,774, reverse strandPNMA6FZNF275: 153,334,122–153,360,110, forward strandZNF275Diagram of NSDHL: 8 exons on the forward strand of chromosome XExon 4: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 7: 2 known disease-causing sitesExon 8: 5 known disease-causing sitesExon 1: 152,831,063–152,831,117, 55 basesExon 2: 152,846,282–152,846,432, 151 basesExon 3: 152,850,265–152,850,423, 159 basesExon 4: 152,858,770–152,858,916, 147 basesExon 5: 152,862,596–152,862,724, 129 basesExon 6: 152,865,819–152,865,961, 143 basesExon 7: 152,867,571–152,867,673, 103 basesExon 8: 152,868,784–152,869,729, 946 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 1.8 kb of the gene's 38.7 kb; 1,122 of those bases code for the protein.

How a genome test reads NSDHL

9

positions in NSDHL 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 38.7 kb of NSDHL, introns included, not only the 1.8 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.). NSDHL gene: NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL. Retrieved 17 October 2026, from https://dantelabs.com/genes/nsdhl

Vancouver

Dante Labs. NSDHL gene: NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/nsdhl

One test. A lifetime of answers.

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

Get my Genome Test