Rabbit anti-Human TCOF1 Polyclonal Antibody | anti-TCOF1 antibody

TCOF1 Rabbit Polyclonal

Cat. Num. AAA7604795

• Gene Names: TCOF1; TCS; MFD1; TCS1; treacle
• Reactivity: Human
• Applications: ELISA, Western Blot, Immunohistochemistry, Immunofluorescence
• Purity: >=95% as determined by SDS-PAGE; Immunogen Affinity Purified
• Synonyms: TCOF1; Polyclonal Antibody; TCOF1 Rabbit Polyclonal; anti-TCOF1 antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: >=95% as determined by SDS-PAGE; Immunogen Affinity Purified
• Form/Format: Liquid
• Sequence Length: 1450

• Applicable Applications for anti-TCOF1 antibody: ELISA (EIA), Western Blot (WB), Immunohistochemistry (IHC), Immunofluorescence (IF)
• Immunogen: Treacher Collins-Franceschetti syndrome 1
• Preparation and Storage: PBS with 0.02% sodium azide and 50% glycerol pH 7.3, -20 degree C for 24 months (Avoid repeated freeze / thaw cycles.)

Immunohistochemistry (IHC)

(Immunohistochemistry of paraffin-embedded human lymphoma using MBS7604795 (TCOF1 antibody) at dilution of 1:50)

Western Blot (WB)

(HeLa cells were subjected to SDS PAGE followed by western blot with MBS7604795 (TCOF1 antibody) at dilution of 1:1000)

NCBI and Uniprot Product Information

• NCBI GI #: 304376301
• NCBI GeneID: 6949
• NCBI Accession #: NP_001182070.1
• NCBI GenBank Nucleotide #: NM_001195141.1
• Molecular Weight: 144,414 Da
• NCBI Official Full Name: treacle protein isoform g
• NCBI Official Synonym Full Names: treacle ribosome biogenesis factor 1
• NCBI Official Symbol: TCOF1
• NCBI Official Synonym Symbols: TCS; MFD1; TCS1; treacle
• NCBI Protein Information: treacle protein
• 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; RNA-binding; Transcription, coactivator/corepressor

Chromosomal Location of Human Ortholog: 5q32

Cellular Component: cytoplasm; nucleolus; nucleus

Molecular Function: protein binding; transporter activity

Biological Process: skeletal development

Disease: Treacher Collins Syndrome 1