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Gene

GGCX

gamma-glutamyl carboxylase

Summary

Cytogenetic location
2p11.2
Coordinates
Chromosome 2: 85,544,720–85,561,493 (GRCh38)
Exons
15 exons across 16.8 kb
Protein
758 amino acids
Inheritance
Autosomal recessive
Also known as
VKCFD1
MANE Select transcript
ENST00000233838.9NM_000821.7
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 reports relevant to this gene

  • Pseudoxanthoma Elasticum

    • PXE-like skin laxity with vitamin K-dependent clotting factor deficiencyAutosomal recessive

      A GGCX disorder with PXE-like skin changes and reduced levels of clotting factors.

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

      Clotting tests and vitamin K supplementation may be advised.

  • Rare Inherited Coagulation Factor Deficiencies

    • Congenital Vitamin K-Dependent Coagulation Factor DeficienciesAutosomal recessive

      Inherited deficiencies of prothrombin (factor II), factor VII or factor X, or of all vitamin K-dependent factors together (caused by changes in GGCX or VKORC1), which can cause nosebleeds, easy bruising and bleeding after injury, surgery or childbirth.

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

      Knowing in advance allows factor replacement to be planned around surgery and childbirth; the combined form often responds to vitamin K.

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 GGCX 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 GGCX sits. GGCX and 19 genes near it on chromosome 2, from 85,053,107 to 86,053,106.Chromosome 22p11.2p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.385.2 Mb85.4 Mb85.6 Mb85.8 Mb86 MbKCMF1: 84,971,093–85,059,472, forward strandKCMF1TCF7L1: 85,133,348–85,310,388, forward strandTCF7L1TGOLN2: 85,311,668–85,328,301, reverse strandTGOLN2RETSAT: 85,341,948–85,354,655, reverse strandRETSATELMOD3: 85,354,394–85,391,752, forward strandELMOD3CAPG: 85,388,144–85,422,017, reverse strandCAPGSH2D6: 85,418,714–85,437,029, forward strandSH2D6MAT2A: 85,539,163–85,545,281, forward strandMAT2AGGCX: 85,544,720–85,561,493, reverse strandGGCXVAMP8: 85,561,562–85,582,032, forward strandVAMP8VAMP5: 85,584,397–85,593,421, forward strandVAMP5RNF181: 85,595,620–85,598,589, forward strandTMEM150A: 85,598,547–85,603,201, reverse strandUSP39: 85,602,856–85,657,710, forward strandC2orf68: 85,605,254–85,612,066, reverse strandSFTPB: 85,655,154–85,668,741, reverse strandSFTPBGNLY: 85,685,175–85,698,854, forward strandGNLYATOH8: 85,751,344–85,794,266, forward strandATOH8ST3GAL5: 85,837,120–85,905,199, reverse strandST3GAL5POLR1A: 86,020,216–86,106,155, reverse strandPOLR1ADiagram of GGCX: 15 exons on the reverse strand of chromosome 2Exon 13: 1 known disease-causing siteExon 11: 3 known disease-causing sitesExon 9: 1 known disease-causing siteExon 8: 2 known disease-causing sitesExon 5: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 15: 85,544,720–85,550,126, 5,407 basesExon 14: 85,550,555–85,550,750, 196 basesExon 13: 85,550,925–85,551,072, 148 basesExon 12: 85,551,480–85,551,610, 131 basesExon 11: 85,551,812–85,551,981, 170 basesExon 10: 85,552,416–85,552,567, 152 basesExon 9: 85,552,939–85,553,070, 132 basesExon 8: 85,553,232–85,553,497, 266 basesExon 7: 85,554,143–85,554,306, 164 basesExon 6: 85,555,484–85,555,590, 107 basesExon 5: 85,556,182–85,556,260, 79 basesExon 4: 85,558,440–85,558,605, 166 basesExon 3: 85,558,917–85,559,075, 159 basesExon 2: 85,560,815–85,560,985, 171 basesExon 1: 85,561,386–85,561,493, 108 bases15141210864215′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 7.6 kb of the gene's 16.8 kb; 2,277 of those bases code for the protein.

How a genome test reads GGCX

10

positions in GGCX 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 16.8 kb of GGCX, introns included, not only the 7.6 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.). GGCX gene: gamma-glutamyl carboxylase. Retrieved 16 October 2026, from https://dantelabs.com/genes/ggcx

Vancouver

Dante Labs. GGCX gene: gamma-glutamyl carboxylase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ggcx

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