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Rabbit Anti-FTSJ1/FITC Conjugated antibody
background:
FTSJ1 is a 329 amino acid nucleolar protein belonging to the RlmE family and methyltransferase superfamily. Expressed in adult thalamus, hippocampus, amygdala, corpus callosum and caudate nucleus, as well as fetal kidney, lung, liver, brain and lung, FTSJ1 plays a role in rRNA modification and processing. FTSJ1 exists as multiple spliced isoforms which are encoded by a gene located on human chromosome Xp11.23. Notably, defects in the gene encoding FTSJ1 are the cause of mental retardation X-linked type 44 (MRX44) and nonsyndromic X-linked mental retardation (MRX9).
Function:
FTSJ1 is a member of the S-adenosylmethionine-binding protein family. It is a nucleolar protein and may be involved in the processing and modification of rRNA. Three alternatively spliced transcript variants encoding different isoforms have been described for this gene.
Tissue Specificity:
Found in fetal brain, lung, liver and kidney. In the adult brain, expressed in amygdala, caudate nucleus, corpus callosum, hippocampus and thalamus.
DISEASE:
Defects in FTSJ1 are the cause of mental retardation X-linked type 44 (MRX44) [MIM:309549]. Mental retardation is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs.
Similarity:
Belongs to the methyltransferase superfamily. RlmE family.
Database links:
Entrez Gene: 24140 Human
Entrez Gene: 54632 Mouse
Entrez Gene: 363450 Rat
Omim: 300499 Human
SwissProt: Q9UET6 Human
Unigene: 23170 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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