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Product Name FAM161A Chinese Name FAM161A蛋白抗体 Alias F161A_HUMAN; Fam161a; Family with sequence similarity 161, member A; FLJ13305; Hypothetical protein LOC84140; MGC129982; MGC129983; OTTHUMP00000201353; Protein FAM161A. Research Area Cell biology immunology Immunogen Species Rabbit Clonality Polyclonal React Species Human, (predicted: Mouse, Rat, Dog, ) Applications WB=1:500-2000 ELISA=1:5000-10000
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 77kDa Cellular localization cytoplasmic Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human FAM161A: 301-400/660 Lsotype IgG Purification affinity purified by Protein A Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail Isoform 1 and isoform 3 are widely expressed with highest levels in retina and testis, with isoform 1 being the mot abundant in all tissues tested. Involvement in disease:Defects in FAM161A are the cause of retinitis pigmentosa type 28 (RP28) . A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Function:
Involved in ciliogenesis.
Subunit:
Interacts (via C-terminus) with microtubules. Interacts with LCA5, CEP290 and SDCCAG8. Interacts with FAM161B.
Subcellular Location:
Cytoplasm, cytoskeleton, cilium basal body. Cell projection, cilium. Note=Localized to the region between the outer and inner photoreceptor segments, corresponding to the photoreceptor connecting cilium.
Tissue Specificity:
Isoform 1 and isoform 3 are widely expressed with highest levels in retina and testis, with isoform 1 being the most abundant in all tissues tested.
DISEASE:
Defects in FAM161A are the cause of retinitis pigmentosa type 28 (RP28) [MIM:606068]. A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Similarity:
Belongs to the FAM161 family.
SWISS:
Q3B820
Gene ID:
84140
Database links:Entrez Gene: 84140 Human
Omim: 613596 Human
SwissProt: Q3B820 Human
Unigene: 440466 Human
Unigene: 154454 Rat
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