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POMGNT1

POMGNT1

The information on this page was automatically extracted from online scientific databases.

What is the official name of the POMGNT1 gene?

The official name of this gene is “protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-).”

POMGNT1 is the gene's official symbol. The POMGNT1 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the POMGNT1 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

This gene encodes a type II transmembrane protein that resides in the Golgi apparatus. It participates in O-mannosyl glycosylation and is specific for alpha linked terminal mannose. Mutations in this gene may be associated with muscle-eye-brain disease and several congenital muscular dystrophies. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 2014]

From UniProtThis link leads to a site outside Genetics Home Reference.:

Participates in O-mannosyl glycosylation. May be responsible for the synthesis of the GlcNAc(beta1-2)Man(alpha1-)O-Ser/Thr moiety on alpha-dystroglycan and other O-mannosylated proteins. Is specific for alpha linked terminal mannose and does not have MGAT3, MGAT4, MGAT5, MGAT7 or MGAT8 activity.

How are changes in the POMGNT1 gene related to health conditions?

Genetics Home Reference provides information about limb-girdle muscular dystrophy, which is associated with changes in the POMGNT1 gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the POMGNT1 gene's known or predicted involvement in human disease.

Muscular dystrophy-dystroglycanopathy congenital with mental retardation B3 (MDDGB3): An autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities. Clinical features include mental retardation, white matter changes, cerebellar cysts, pontine hypoplasia, myopia, optic atrophy, decreased alpha-dystroglycan on muscle biopsy and increased serum creatine kinase. The disease is caused by mutations affecting the gene represented in this entry.

Muscular dystrophy-dystroglycanopathy limb-girdle C3 (MDDGC3): A rare form of limb-girdle muscular dystrophy with normal cognition. Muscle biopsy shows dystrophic changes with variable staining for glycosylated alpha-dystroglycan. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the POMGNT1 gene.
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
  • Muscle eye brain disease
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the POMGNT1 gene and its association with health conditions.
OMIM
Number
Title

Where is the POMGNT1 gene located?

Cytogenetic Location: 1p34.1

Molecular Location on chromosome 1: base pairs 46,188,680 to 46,220,304

The POMGNT1 gene is located on the short (p) arm of chromosome 1 at position 34.1.

The POMGNT1 gene is located on the short (p) arm of chromosome 1 at position 34.1.

More precisely, the POMGNT1 gene is located from base pair 46,188,680 to base pair 46,220,304 on chromosome 1.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about POMGNT1?

You and your healthcare professional may find the following resources about POMGNT1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the POMGNT1 gene or gene products?

  • GNTI.2
  • GnT I.2
  • LGMD2O
  • MEB
  • MGAT1.2

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding POMGNT1?

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: December 16, 2014