POMGNT1 gene

protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)

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

From NCBI Gene:

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 UniProt:

Participates in O-mannosyl glycosylation by catalyzing the addition of N-acetylglucosamine to O-linked mannose on glycoproteins (PubMed:11709191, PubMed:27493216, PubMed:28512129). Catalyzes the synthesis of the GlcNAc(beta1-2)Man(alpha1-)O-Ser/Thr moiety on alpha-dystroglycan and other O-mannosylated proteins, providing the necessary basis for the addition of further carbohydrate moieties (PubMed:11709191, PubMed:27493216). Is specific for alpha linked terminal mannose and does not have MGAT3, MGAT4, MGAT5, MGAT7 or MGAT8 activity.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Muscle eye brain disease
  • Retinitis pigmentosa 76
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3

From UniProt:

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3): An autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, cobblestone lissencephaly, and cerebellar and pontine hypoplasia. Patients present severe congenital myopia, congenital glaucoma, pallor of the optic disks, retinal hypoplasia, mental retardation, hydrocephalus, abnormal electroencephalograms, generalized muscle weakness and myoclonic jerks. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. [MIM:253280]

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. [MIM:613151]

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. [MIM:613157]

Retinitis pigmentosa 76 (RP76): A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP76 inheritance is autosomal recessive. [MIM:617123]

Cytogenetic Location: 1p34.1, which is the short (p) arm of chromosome 1 at position 34.1

Molecular Location: base pairs 46,188,681 to 46,220,305 on chromosome 1 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 1p34.1, which is the short (p) arm of chromosome 1 at position 34.1
  • gnT-I.2
  • GnT I.2
  • GNTI.2
  • LGMD2O
  • LGMDR15
  • MEB
  • MGAT1.2
  • RP76