- 细胞因子
- Dihydropyrimidinase and Proteins
- Regulatory proteins
- 授予称号
- Peptide Substrates
- Isoform Specific Antibodies
- Deacetylase & Demethylase Proteins
- Acetyl & Methyltransferase Proteins
- siRNA Controls
- Cell Stress and Chaperone Proteins
- 激酶
- 双加氧酶与蛋白质
- Transcription Proteins
- Carbohydrate Kinases
- 表观遗传酶抑制剂
- Growth Factors
- 脂类激酶
- Phospholipase C and Proteins
- Mutant Kinases
- Oligo Substrates
- Fluorescent and Color Proteins
Overview:
POMK or protein-O-mannose kinase encodes a protein that may be involved in the presentation of the laminin-binding O-linked carbohydrate chain of alpha-dystroglycan (a-DG), which forms transmembrane linkages between the extracellular matrix and the exoskeleton. POMK is involved in cell surface presentation of laminin -binding carbohydrates on alpha-dystroglycan (1). Mutations in GTDC2, B3GALNT2, and SGK196 disrupt dystroglycan receptor function and lead to congenital muscular dystrophy (2).
Gene Aliases:
MDDGA12; SGK196
Genbank Number:
NM_032237
References:
1. Jae, L. T.et.al: Deciphering the glycosylome of dystroglycanopathies using haploid screens for Lassa virus entry. Science 340: 479-483, 2013.2. Yoshida-Moriguchi, T. et.al: SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function. Science 341: 896-899, 2013.
