Rabbit anti-Human, Mouse Treacle / TCOF1 Polyclonal Antibody | anti-TCOF1 antibody

Rabbit Polyclonal (IgG) to Human Treacle / TCOF1

Cat. Num. AAA244553

• Gene Names: TCOF1; TCS; MFD1; TCS1; treacle
• Reactivity: Human, Mouse
• Applications: Immunohistochemistry, Western Blot, ELISA
• Purity: Immunoaffinity Purified
• Synonyms: Treacle / TCOF1; Polyclonal Antibody; Rabbit Polyclonal (IgG) to Human Treacle / TCOF1; Anti-Treacle / TCOF1 Antibody (aa41-90) IHC-plus; TCOF1; Treacle; MFD1; TCS1; Treacle protein; Human Treacle; anti-TCOF1 antibody

• Host: Rabbit
• Reactivity: Human, Mouse
• Clonality: Polyclonal
• Isotype: IgG
• Specificity: TCOF1 Antibody detects endogenous levels of total TCOF1 protein.
• Purity/Purification: Immunoaffinity Purified
• Form/Format: PBS (without Mg2+, Ca2+), pH 7.4, 150 mM sodium chloride, 0.02% sodium azide, 50% glycerol
• Concentration: 1 mg/ml (varies by lot)
• Sequence Length: 1411

• Applicable Applications for anti-TCOF1 antibody: Immunohistochemistry (IHC - Paraffin), Western Blot (WB), ELISA (EIA)
• Application Notes: ELISA (1:10000), IHC-P (5 ug/ml), WB (1:500 - 1:1000)
• Target Species: Human
• Immunogen Description: Synthetic peptide from human TCOF1 (aa41-90).
• Immunogen: Treacle / TCOF1 antibody was raised against synthetic peptide from human TCOF1 (aa41-90).
• Antigen Modification: aa41-90
• Preparation and Storage: Store at -20 degree C for up to one year.

Immunohistochemistry (IHC)

(Anti-Treacle / TCOF1 antibody IHC of human thymus. Immunohistochemistry of formalin-fixed, paraffin-embedded tissue after heat-induced antigen retrieval. Antibody dilution 5 ug/ml.)

Western Blot (WB)

(Western blot of extracts from Jurkat/293/HeLa cells, using TCOF1 Antibody. The lane on the right is treated with the synthesized peptide.)

Related Product Information for anti-TCOF1 antibody

TCOF1 protein is required during embryonic development for proper nucleolar-cytoplasmic trafficking in branchial arches-derived tissues. Loss of function mutations in the TCOF1 or Treacle gene lead to the Treacher Collins Syndrome, an autosomal dominant disease characterized by malformations of the mandibulofacial region. Affected patients suffer from cranofacial deformity such as cleft palate and hearing loss. The mouse gene is widely expressed.

NCBI and Uniprot Product Information

• NCBI GI #: 57164975
• NCBI GeneID: 6949
• NCBI Accession #: NP_000347.2
• NCBI GenBank Nucleotide #: NM_000356.3
• UniProt Accession #: Q13428; Q6SC72; Q7Z5W9; Q96A52; Q99408; Q99860; A0JLU0; B4E111
• Molecular Weight: 144,414 Da
• NCBI Official Full Name: treacle protein isoform b
• NCBI Official Synonym Full Names: Treacher Collins-Franceschetti syndrome 1
• NCBI Official Symbol: TCOF1
• NCBI Official Synonym Symbols: TCS; MFD1; TCS1; treacle
• NCBI Protein Information: treacle protein; Treacher Collins syndrome protein; nucleolar trafficking phosphoprotein
• UniProt Protein Name: Treacle protein
• Protein Family: Treacle protein
• UniProt Gene Name: TCOF1
• UniProt Entry Name: TCOF_HUMAN

NCBI Description

This gene encodes a nucleolar protein with a LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]

Uniprot Description

treacle: May be involved in nucleolar-cytoplasmic transport. May play a fundamental role in early embryonic development, particularly in development of the craniofacial complex. May participate in certain stages of ribosome biogenesis. Defects in TCOF1 are the cause of Treacher Collins syndrome type 1 (TCS1). It is a form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. 8 isoforms of the human protein are produced by alternative splicing.

Protein type: Nucleolus; Transcription, coactivator/corepressor; RNA-binding

Chromosomal Location of Human Ortholog: 5q32

Cellular Component: cytoplasm; nucleolus; nucleus

Molecular Function: protein binding; transporter activity

Biological Process: transport; transcription of nuclear rRNA large RNA polymerase I transcript; skeletal development

Disease: Treacher Collins Syndrome 1