B4GALNT1 gene

beta-1,4-N-acetyl-galactosaminyltransferase 1

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

From NCBI Gene:

GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T is the enzyme involved in the biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T catalyzes the transfer of GalNAc into G(M3) and G(D3) by a beta-1,4 linkage, resulting in the synthesis of G(M2) and G(D2), respectively. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]

From UniProt:

Involved in the biosynthesis of gangliosides GM2, GD2 and GA2.

From UniProt:

Spastic paraplegia 26, autosomal recessive (SPG26): A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG26 is a complicated form characterized by onset in the first 2 decades of life of gait abnormalities due to lower limb spasticity and muscle weakness. Some patients have upper limb involvement. Additional features include intellectual disability, peripheral neuropathy, dysarthria, cerebellar signs, extrapyramidal signs, and cortical atrophy. The disorder is slowly progressive. [MIM:609195]

Cytogenetic Location: 12q13.3, which is the long (q) arm of chromosome 12 at position 13.3

Molecular Location: base pairs 57,623,409 to 57,633,239 on chromosome 12 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 12q13.3, which is the long (q) arm of chromosome 12 at position 13.3
  • GalNAc-T
  • SPG26