NP_001164099.1
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
105,116 Da
NCBI Official Full Name
AF4/FMR2 family member 2 isoform 6
NCBI Official Synonym Full Names
AF4/FMR2 family, member 2
NCBI Protein Information
AF4/FMR2 family member 2; protein FMR-2; fragile X mental retardation 2 protein; fragile X E mental retardation syndrome protein
UniProt Protein Name
AF4/FMR2 family member 2
UniProt Synonym Protein Names
Fragile X E mental retardation syndrome protein; Fragile X mental retardation 2 protein; FMR2P; Protein FMR-2; Protein Ox19
UniProt Synonym Gene Names
UniProt Entry Name
AFF2_HUMAN
NCBI Summary for AFF2
This gene encodes a putative transcriptional activator that is a member of the AF4FMR2 gene family. This gene is associated with the folate-sensitive fragile X E locus on chromosome X. A repeat polymorphism in the fragile X E locus results in silencing of this gene causing Fragile X E syndrome. Fragile X E syndrome is a form of nonsyndromic X-linked mental retardation. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2009]
UniProt Comments for AFF2
AFF2: RNA-binding protein. Might be involved in alternative splicing regulation through an interaction with G-quartet RNA structure. Defects in AFF2 are the cause of mental retardation X- linked associated with fragile site FRAXE (MRFRAXE). A form of mild to moderate mental retardation associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior. It is associated with a fragile site on chromosome Xq28. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Caused either by silencing of the AFF2 gene as a consequence of a CCG expansion located upstream of this gene or by deletion within the gene. Loss of AFF2 expression is correlated with FRAXE CCG(N) expansion. Normal individuals have 6-35 copies of the repeat, whereas cytogenetically positive, developmentally delayed males have more than 200 copies and show methylation of the associated CPG island. Belongs to the AF4 family. 7 isoforms of the human protein are produced by alternative splicing.
Protein type: DNA-binding
Chromosomal Location of Human Ortholog: Xq28
Cellular Component: nuclear speck
Biological Process: learning and/or memory; regulation of RNA splicing; RNA splicing; brain development; mRNA processing
Disease: Mental Retardation, X-linked, Associated With Fragile Site Fraxe
Research Articles on AFF2
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Diseases associated with AFF2 elisa kit
Organs/Tissues associated with AFF2 elisa kit
|