Recombinant Human Uncharacterized methyltransferase WBSCR22 (WBSCR22)

Cat.No	ACP20951	Target Name	BUD23
Form	Lyophilized powder	Expression System	Custom Production. Please inquire and provide the desire expression system.
Expression Range	1-281	Protein Length	Full length protein
Purity	>85% (SDS-PAGE)	Storage Buffer	5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, Liquid form: default storage buffer is Tris/PBS-based buffer, pH 8.0.

Cat.No

ACP20951

Target Name

BUD23

Form

Lyophilized powder

Expression System

Custom Production. Please inquire and provide the desire expression system.

Expression Range

1-281

Protein Length

Full length protein

Purity

>85% (SDS-PAGE)

Storage Buffer

5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, Liquid form: default storage buffer is Tris/PBS-based buffer, pH 8.0.

Target Species	Human	Uniprot ID	O43709

Background Information

Uniprot Id

O43709
Target Species

Human
Target Name

BUD23
Target Full Name

18S rRNA (guanine-N(7))-methyltransferase
Target Function

S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the N(7) position of a guanine in 18S rRNA. Requires the methyltransferase adapter protein TRM112 for full rRNA methyltransferase activity. Involved in the pre-rRNA processing steps leading to small-subunit rRNA production independently of its RNA-modifying catalytic activity. Important for biogenesis end export of the 40S ribosomal subunit independent on its methyltransferase activity. Locus-specific steroid receptor coactivator. Potentiates transactivation by glucocorticoid (NR3C1), mineralocorticoid (NR3C2), androgen (AR) and progesterone (PGR) receptors. Required for the maintenance of open chromatin at the TSC22D3/GILZ locus to facilitate NR3C1 loading on the response elements. Required for maintenance of dimethylation on histone H3 'Lys-79' (H3K79me2), although direct histone methyltransferase activity is not observed in vitro
Target Involvement

BUD23 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of BUD23 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.
Target Subcellular Location

Nucleus. Nucleus, nucleoplasm. Cytoplasm, perinuclear region. Cytoplasm.
Target Protein Families

Class I-like SAM-binding methyltransferase superfamily, BUD23/WBSCR22 family
Target Tissue Specificity

Widely expressed, with high levels in heart, skeletal muscle and kidney. Detected at high levels in bronchial brushings and in normal lung (at protein level). In fetal lung tissue, expressed in the developing bronchial lumen lining cells (at protein level
Target Synonyms

HASJ4442 ; HUSSY 3; HUSSY3; PP3381 ; Uncharacterized methyltransferase WBSCR22; WBMT ; WBS22_HUMAN; WBSCR22; Williams Beuren candidate region putative methyltransferase; Williams Beuren syndrome chromosome region 22 protein; Williams-Beuren syndrome chromosomal region 22 protein

Recombinant Human Uncharacterized methyltransferase WBSCR22 (WBSCR22)

Specifications

Immunogen Information

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