Symbol: Name: ID: |
TCOF1 Treacher Collins-Franceschetti syndrome 1 GFS:1499 |
Gene name: | TCOF1 |
Chromosome: | 5q31.3-q33.3 |
Previous Symbols: | |
Previous Names: | |
Aliases: | treacle |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:892003 | Rat Genome Database ID: | RGD:1309850 |
HGNC ID: | HGNC:11654 | RefSeq IDs: | NM_000356 |
Entrez Gene ID: | 6949 | Ensembl Gene ID: | ENSG00000070814 |
VEGA IDs: | OTTHUMG00000130081 | UniProt ID: | Q13428 |
UCSC ID: | uc011dch.1 | OMIM ID: | 606847 |
Pubmed: | PMID1765376 | ||
CCDS IDs: | CCDSCCDS4306.1 CCDS CCDS47305.1 CCDS CCDS47306.1 CCDS CCDS47307.1 |
Treacle protein is a protein that in humans is encoded by the TCOF1 gene. 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].
May be involved in nucleolar-cytoplasmic transport. May play a fundamental role in early embryonic development, particularly in development of the craniofacial complex (By similarity).
Products for TCOF1 gene
Catalog | Product Name | Application | Company |
GFS:E01499 | Treacher Collins-Franceschetti syndrome 1; ELISA kit | ELISA | n/a |
GFS:A01499 | Treacher Collins-Franceschetti syndrome 1; Anti | ANTIBODIES | n/a |
GFS:P01499 | Treacher Collins-Franceschetti syndrome 1; Protien | Protien | n/a |