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Gene

GFAP

glial fibrillary acidic protein

Summary

Cytogenetic location
17q21.31
Coordinates
Chromosome 17: 44,903,159–44,915,500 (GRCh38)
Exons
9 exons across 12.3 kb
Protein
432 amino acids
Inheritance
Autosomal dominant
Also known as
FLJ45472
MANE Select transcript
ENST00000588735.3NM_002055.5
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 reports relevant to this gene

  • Alexander Disease

    • Autosomal dominant

      GFAP changes lead to abnormal protein deposits in astrocytes, causing an enlarged head and developmental regression in infants, or problems with swallowing, speech, balance and walking in later onset forms.

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

      Diagnosis ends the search for a cause, guides supportive care and clarifies the risk for relatives.

Broader groupings

  • Other Inherited Leukodystrophies

    • Leukodystrophy (other and unspecified types)

      One of 80 genes linked to it

      Inherited conditions that damage or prevent the normal formation of myelin, the white matter of the brain and spinal cord. Different types follow autosomal recessive, autosomal dominant or X-linked inheritance depending on the gene involved.

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

      Knowing the specific genetic cause can end a diagnostic search, guide supportive care and surveillance, show whether a specific treatment exists, and allow testing of relatives.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How GFAP is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 17, with a bracket where GFAP sits. GFAP and 23 genes near it on chromosome 17, from 44,409,330 to 45,409,329.Chromosome 1717q21.31p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.344.6 Mb44.8 Mb45 Mb45.2 Mb45.4 MbGPATCH8: 44,395,281–44,503,639, reverse strandGPATCH8FZD2: 44,557,484–44,561,262, forward strandFZD2MEIOC: 44,656,363–44,690,308, forward strandMEIOCCCDC43: 44,671,063–44,689,831, reverse strandCCDC43DBF4B: 44,708,595–44,752,269, forward strandDBF4BADAM11: 44,758,962–44,781,846, forward strandADAM11GJC1: 44,798,448–44,831,496, reverse strandGJC1HIGD1B: 44,844,763–44,850,480, forward strandHIGD1BEFTUD2: 44,849,948–44,899,629, reverse strandEFTUD2DNAAF19: 44,889,234–44,905,390, forward strandDNAAF19GFAP: 44,903,159–44,915,500, reverse strandGFAPFAM187A: 44,903,433–44,905,390, forward strandFAM187AKIF18B: 44,924,707–44,947,781, reverse strandKIF18BNMT1: 44,957,992–45,109,016, forward strandNMT1C1QL1: 44,958,933–44,968,369, reverse strandC1QL1DCAKD: 45,023,338–45,061,137, reverse strandDCAKDPLCD3: 45,108,959–45,133,354, reverse strandPLCD3ACBD4: 45,132,597–45,144,181, forward strandACBD4HEXIM1: 45,148,475–45,152,099, forward strandHEXIM1HEXIM2: 45,160,695–45,170,701, forward strandHEXIM2FMNL1: 45,220,736–45,247,319, forward strandFMNL1SPATA32: 45,254,388–45,262,116, reverse strandSPATA32MAP3K14: 45,263,119–45,317,112, reverse strandMAP3K14ARHGAP27: 45,393,898–45,434,421, reverse strandARHGAP27Diagram of GFAP: 9 exons on the reverse strand of chromosome 17Exon 8: 2 known disease-causing sitesExon 7: 1 known disease-causing siteExon 6: 8 known disease-causing sitesExon 5: 3 known disease-causing sitesExon 4: 5 known disease-causing sitesExon 3: 1 known disease-causing siteExon 1: 16 known disease-causing sitesExon 9: 44,903,159–44,907,388, 4,230 basesExon 8: 44,908,064–44,908,149, 86 basesExon 7: 44,910,615–44,910,658, 44 basesExon 6: 44,911,236–44,911,456, 221 basesExon 5: 44,911,672–44,911,797, 126 basesExon 4: 44,913,269–44,913,430, 162 basesExon 3: 44,913,728–44,913,823, 96 basesExon 2: 44,914,028–44,914,088, 61 basesExon 1: 44,915,026–44,915,500, 475 bases9876543215′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 5.5 kb of the gene's 12.3 kb; 1,299 of those bases code for the protein.

How a genome test reads GFAP

37

positions in GFAP 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 12.3 kb of GFAP, introns included, not only the 5.5 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.). GFAP gene: glial fibrillary acidic protein. Retrieved 16 October 2026, from https://dantelabs.com/genes/gfap

Vancouver

Dante Labs. GFAP gene: glial fibrillary acidic protein [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/gfap

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