Skip to content
Use your HSA or FSA funds

Gene

FAH

fumarylacetoacetate hydrolase

Summary

Cytogenetic location
15q25.1
Coordinates
Chromosome 15: 80,152,999–80,186,349 (GRCh38)
Exons
14 exons across 33.4 kb
Protein
419 amino acids
Inheritance
Autosomal recessive
MANE Select transcript
ENST00000561421.6NM_000137.4
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

  • Tyrosinemia

    • Autosomal recessive

      An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs.

      • ClinGen rates the link definitive
      • 8 GenCC submitters rate it definitive or strong
      What knowing changes

      Nitisinone (NTBC/Orfadin) lifelong; tyrosine and phenylalanine-restricted diet; AFP and liver MRI surveillance for HCC; liver transplantation for nitisinone-refractory disease or HCC; renal monitoring

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 FAH is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 15, with a bracket where FAH sits. FAH and 6 genes near it on chromosome 15, from 79,669,674 to 80,669,673.Chromosome 1515q25.1p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q14q15.1q15.2q15.3q21.1q21.2q21.3q22.1q22.2q22.31q22.32q22.33q23q24.1q24.2q24.3q25.1q25.2q25.3q26.1q26.2q26.379.8 Mb80 Mb80.2 Mb80.4 Mb80.6 MbMTHFS: 79,833,585–79,897,379, reverse strandMTHFSST20-MTHFS: 79,845,150–79,923,754, reverse strandST20-MTHFSBCL2A1: 79,960,892–79,971,243, reverse strandBCL2A1ZFAND6: 80,058,894–80,140,292, forward strandZFAND6FAH: 80,152,999–80,186,349, forward strandFAHCTXND1: 80,195,481–80,252,268, reverse strandCTXND1ARNT2: 80,404,099–80,597,937, forward strandARNT2Diagram of FAH: 14 exons on the forward strand of chromosome 15Exon 1: 15 known disease-causing sitesExon 2: 5 known disease-causing sitesExon 3: 7 known disease-causing sitesExon 4: 3 known disease-causing sitesExon 5: 13 known disease-causing sitesExon 6: 11 known disease-causing sitesExon 7: 4 known disease-causing sitesExon 8: 12 known disease-causing sitesExon 9: 15 known disease-causing sitesExon 10: 6 known disease-causing sitesExon 11: 3 known disease-causing sitesExon 12: 18 known disease-causing sitesExon 13: 4 known disease-causing sitesExon 14: 6 known disease-causing sitesExon 1: 80,152,999–80,153,135, 137 basesExon 2: 80,158,060–80,158,170, 111 basesExon 3: 80,159,756–80,159,877, 122 basesExon 4: 80,160,410–80,160,459, 50 basesExon 5: 80,162,246–80,162,336, 91 basesExon 6: 80,168,052–80,168,149, 98 basesExon 7: 80,168,264–80,168,316, 53 basesExon 8: 80,172,149–80,172,248, 100 basesExon 9: 80,173,014–80,173,144, 131 basesExon 10: 80,175,016–80,175,091, 76 basesExon 11: 80,177,537–80,177,583, 47 basesExon 12: 80,180,124–80,180,225, 102 basesExon 13: 80,181,042–80,181,159, 118 basesExon 14: 80,186,130–80,186,349, 220 bases124681012145′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 1.5 kb of the gene's 33.4 kb; 1,260 of those bases code for the protein.

How a genome test reads FAH

161

positions in FAH 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 33.4 kb of FAH, introns included, not only the 1.5 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.). FAH gene: fumarylacetoacetate hydrolase. Retrieved 16 October 2026, from https://dantelabs.com/genes/fah

Vancouver

Dante Labs. FAH gene: fumarylacetoacetate hydrolase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/fah

One test. A lifetime of answers.

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

Get my Genome Test