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Gene

B4GALT1

beta-1,4-galactosyltransferase 1

Summary

Cytogenetic location
9p21.1
Coordinates
Chromosome 9: 33,110,642–33,167,336 (GRCh38)
Exons
6 exons across 56.7 kb
Protein
398 amino acids
Also known as
beta4Gal-T1
Previous symbols
GGTB2
MANE Select transcript
ENST00000379731.5NM_001497.4
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

    • Congenital Disorders of Glycosylation

      • Congenital Disorders of Glycosylation (CDG)

        One of 98 genes linked to it

        A large group of inherited conditions in which sugar chains (glycans) are not correctly built or attached to proteins and lipids, often affecting the brain, liver, blood clotting, growth and many other body systems. Most are autosomal recessive, but some are X-linked or autosomal dominant.

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

    How B4GALT1 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Stretches short reads find hard
    Chromosome 9, with a bracket where B4GALT1 sits. B4GALT1 and 12 genes near it on chromosome 9, from 32,638,989 to 33,638,988.Chromosome 99p21.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q13q21.11q21.12q21.13q21.2q21.31q21.32q21.33q22.1q22.2q22.31q22.32q22.33q31.1q31.2q31.3q32q33.1q33.2q33.3q34.11q34.12q34.13q34.2q34.332.8 Mb33 Mb33.2 Mb33.4 Mb33.6 MbTMEM215: 32,783,535–32,789,201, forward strandTMEM215APTX: 32,886,601–33,025,176, reverse strandAPTXDNAJA1: 33,025,203–33,041,858, forward strandDNAJA1SMU1: 33,041,765–33,081,411, reverse strandSMU1B4GALT1: 33,110,642–33,167,336, reverse strandB4GALT1SPINK4: 33,218,365–33,248,567, forward strandSPINK4BAG1: 33,247,820–33,264,720, reverse strandBAG1CHMP5: 33,264,017–33,282,071, forward strandCHMP5NFX1: 33,290,428–33,372,467, forward strandNFX1AQP7: 33,383,133–33,437,236, reverse strandAQP7AQP3: 33,441,156–33,447,596, reverse strandAQP3NOL6: 33,461,353–33,473,930, reverse strandNOL6ANKRD18B: 33,523,522–33,608,848, forward strandANKRD18BDiagram of B4GALT1: 6 exons on the reverse strand of chromosome 9Exon 6: 33,110,642–33,113,586, 2,945 basesExon 5: 33,113,774–33,113,878, 105 basesExon 4: 33,115,991–33,116,113, 123 basesExon 3: 33,120,419–33,120,606, 188 basesExon 2: 33,135,189–33,135,424, 236 basesExon 1: 33,166,758–33,167,336, 579 bases6543215′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 4.2 kb of the gene's 56.7 kb; 1,197 of those bases code for the protein.

    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.
    • 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.). B4GALT1 gene: beta-1,4-galactosyltransferase 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/b4galt1

    Vancouver

    Dante Labs. B4GALT1 gene: beta-1,4-galactosyltransferase 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/b4galt1

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