MLEC is a 292 amino acid single-pass type I membrane protein of the endoplasmic reticulum that belongs to the malectin family and is thought to play a role in N-glycosylation. MLEC may function as a carbohydrate-binding protein that preferentially binds Glc2-N-glycan. The gene encoding MLEC maps to human chromosome 12, which makes up about 4.5% of the human genome. A number of skeletal deformities are linked to chromosome 12, including hypochondrogenesis, achondrogenesis and Kniest dysplasia. Noonan syndrome, which includes heart and facial developmental defects among the primary symptoms, is caused by a mutant form of PTPN11 gene product, SH-PTP2. Chromosome 12 is also home to a homeobox gene cluster, which encodes crucial transcription factors for morphogenesis, and the natural killer complex gene cluster, encoding SLCtype lectin proteins which mediate the NK cell response to MHC I interaction. Trisomy 12p leads to facial development defects, seizure disorders and a host of other symptoms which vary in severity depending on the extent of mosaicism. It is most severe in cases of complete trisomy.
Function:
Carbohydrate-binding protein with a strong ligand preference for Glc2-N-glycan. May play a role in the early steps of protein N-glycosylation.
Subcellular Location:
Endoplasmic reticulum membrane.
Similarity:
Belongs to the malectin family.
SWISS:
Q14165
Gene ID:
9761
Database links:
Entrez Gene: 9761 Human
Entrez Gene: 109154 Mouse
Entrez Gene: 304543 Rat
Entrez Gene: 569613 Zebrafish
Omim: 62762 Human
SwissProt: Q14165 Human
SwissProt: Q6ZQI3 Mouse
SwissProt: Q5FVQ4 Rat
SwissProt: A9C3P0 Zebrafish
Unigene: 728853 Human
Unigene: 153963 Mouse
Unigene: 162140 Rat
Unigene: 141682 Zebrafish
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