Product Overview
Description
CLPP-00151198 is recombinant human THG1L protein
Applications
Mass Spectrometry, SDS-PAGE
Protein Length
Protein fragment
Nature
Recombinant Protein
Sequence
MGSSHHHHHHSSGLVPRGSHMGSMAKSKFEYVRDFEADDTCLAHCWVVVRLDGRNFHRFAEKHNFAKPNDSRALQLMTKCAQTVMEELEDIVIAYGQSDEYSFVFKRKTNWFKRRASKFM
THVASQFASSYVFYWRDYFEDQPLLYPPGFDGRVVVYPSNQTLKDYLSWRQADCHINNLYNTVFWALIQQSGLTPVQAQGRLQGTLAADKNEILFSEFNINYNNELPMYRKGTVLIWQKVDEVMTKEIKLPTEMEGKKMAVTRTRTKPVPLHCDIIGDAFWKEHPEILDEDS
Sequence Similarities
Belongs to the tRNA(His) guanylyltransferase family.
Predicted Molecular Weight
34 kDa including tags
Target Information
Alternative Names
ICF45; Interphase cytoplasmic foci protein 45; Probable tRNA(His) guanylyltransferase; THG1_HUMAN; THG1L; tRNA histidine guanylyltransferase 1 like (S. cerevisiae); tRNA-histidine guanylyltransferase
Protein Function
Adds a GMP to the 5'-end of tRNA(His) after transcription and RNase P cleavage. This step is essential for proper recognition of the tRNA and for the fidelity of protein synthesis (Probable). Also functions as a guanyl-nucleotide exchange factor/GEF for the MFN1 and MFN2 mitofusins thereby regulating mitochondrial fusion. By regulating both mitochondrial dynamics and bioenergetic function, it contributes to cell survival following oxidative stress.
Tissue Specificity
Expressed in many tissues.
Involvement in Disease
Spinocerebellar ataxia, autosomal recessive, 28 (SCAR28): A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR28 patients manifest mild motor developmental delay, gait ataxia, and dysarthria. Some patients show mildly impaired intellectual development. Disease onset is in early childhood. The disease is caused by variants affecting the gene represented in this entry.
Shipping & Handling
Constituents
0.02% DTT, 0.32% Tris HCl, 20% Glycerol (glycerin, glycerine), 0.58% Sodium chloride.
Shipping
Shipped at 4 °C.
Storage
Store at -20 °C or -80 °C.
