NCBI Description
The protein encoded by this gene is a nuclear zinc finger protein that is involved in development of the cochlea. Defects in this gene have also been linked to intellectual disability. [provided by RefSeq, Mar 2011]
Uniprot Description
Function: Implicated in development of the cochlea
By similarity.
Subunit structure: Interacts (via SIM domains) with SUMO1 and SUMO2. Ref.6
Involvement in disease: Mental retardation, anterior maxillary protrusion, and strabismus (MRAMS) [MIM:613671]: A syndrome characterized by severe mental retardation, strabismus and dysmorphic features such as anterior maxillary protrusion with vertical maxillary excess, open bite and prominent crowded teeth. Some patients may lack dysmorphic features and manifest temporal lobe epilepsy and psychosis. Esotropia and amblyopia are present in some individuals.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5
Sequence similarities: Belongs to the SOBP family.Contains 2 FCS-type zinc fingers.
Sequence caution: The sequence AAH91526.2 differs from that shown. Reason: Intron retention.The sequence BAC03537.1 differs from that shown. Reason: Intron retention.
Product Notes
The SOBP sobp (Catalog #
AAA6349737) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The SOBP, CT (SOBP, JXC1, Sine oculis-binding protein homolog, Jackson circler protein 1) (PE) reacts with Human and may cross-react with other species as described in the data sheet. AAA Biotech's SOBP can be used in a range of immunoassay formats including, but not limited to, Western Blot (WB), FLISA. WB: 1:100-500 FLISA: 1:1,000 Applications are based on unconjugated antibody. Researchers should empirically determine the suitability of the SOBP sobp for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process.
It is sometimes possible for the material contained within the vial of
"SOBP, Polyclonal Antibody" to become dispersed throughout the inside of
the vial, particularly around the seal of said vial, during shipment and storage. We always
suggest centrifuging these vials
to consolidate all of the liquid away from the lid and to the bottom of the vial prior to
opening. Please be advised that
certain products may require dry ice for shipping and that, if this is the case, an
additional dry ice fee may also be
required.
Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are
absolutely not suitable for use in any
sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a
product from AAA Biotech, you
are explicitly certifying that said products will be properly tested and used in line with
industry standard. AAA Biotech
and its authorized distribution partners reserve the right to refuse to fulfill any order if
we have any indication that a
purchaser may be intending to use a product outside of our accepted criteria.
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