HomeGeneticsGeneB3GLCT gene
Back to Gene
B3GLCT gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

B3GLCT Gene: Overview and Health Conditions

The B3GLCT gene provides instructions for making an enzyme essential for protein glycosylation, and mutations in this gene are a known cause of Peters plus syndrome.

Overview

The B3GLCT gene (formerly known as B3GALTL) is located on chromosome 13. It provides instructions for producing an enzyme called beta 3-glucosyltransferase (B3Glc-T). This enzyme is active in most cells of the body, suggesting it plays a critical role across many cell types.

Normal Function

The B3Glc-T enzyme is involved in glycosylation, a complex process that adds sugar molecules to proteins. This modification allows proteins to perform a wider variety of functions. Specifically, B3Glc-T participates in a two-step glycosylation pathway that creates a sugar structure composed of fucose and glucose on specific locations of various proteins.

  • Step 1: A fucose molecule is attached to the protein.
  • Step 2: The B3Glc-T enzyme adds a glucose molecule to the already attached fucose molecule.

Health Conditions Related to Genetic Changes

Peters Plus Syndrome

At least 10 mutations in the B3GLCT gene have been identified as causes of Peters plus syndrome. This condition is characterized by:

  • Eye abnormalities
  • Short stature
  • Intellectual disability
  • Distinctive facial features

The most common mutation involves replacing the DNA building block (nucleotide) guanine with adenine near an area of the gene called exon 8 (written as 660+1G>A). This change disrupts the assembly of genetic information needed to produce the B3Glc-T enzyme, resulting in an abnormally short and nonfunctional protein. While the exact mechanism is unclear, the loss of functional B3Glc-T likely impairs glycosylation, disrupting the function of many proteins and contributing to the diverse features of the syndrome.

Other Names for This Gene

  • B3GALTL
  • B3Glc-T
  • B3GLT_HUMAN
  • B3GTL
  • beta 1,3-galactosyltransferase-like
  • beta-3-glycosyltransferase-like
  • beta3Glc-T

Frequently Asked Questions

pediatric geneticist will first review the infant’s physical features—such as corneal opacity, facial dysmorphism, and short stature—and then order a targeted genetic test. A blood sample is sent for sequencing of the B3GLCT gene; if a pathogenic mutation (e.g., 660+1G>A) is found, the diagnosis is confirmed. Additional imaging (e.g., brain MRI) and ophthalmologic exams are often performed to assess associated anomalies.
The most frequent ocular issue is Peters anomaly, a congenital corneal opacity that can impair vision. Management usually involves early ophthalmologic evaluation, possible corneal transplant or keratoplasty, and regular monitoring for glaucoma or cataracts. Vision‑restoring surgeries are tailored to the severity of the opacity and the patient’s overall health.
Growth hormone therapy has been tried in some cases with modest improvement in height velocity, but results vary. Physical therapy, occupational therapy, and early developmental support can help maximize functional outcomes. A multidisciplinary team—including endocrinology, orthopedics, and developmental specialists—should evaluate each child individually.
B3GLCT mutations are inherited in an autosomal recessive pattern. If both parents are carriers, each pregnancy has a 25 % chance of producing an affected child, a 50 % chance of a carrier child, and a 25 % chance of an unaffected child. Genetic counseling and carrier testing for family members are recommended before planning future pregnancies.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

kontakt@hittavard.se

Ⓒ 2024. Alla rättigheter förbehålls av juxt ab

Sök
Om ossVillkor och policyVanliga frågorKontakta oss