产品货号 : mlR8216
英文名称 : FAM161A
中文名称 : FAM161A蛋白抗体
别 名 : F161A_HUMAN; Fam161a; Family with sequence similarity 161, member A; FLJ13305; Hypothetical protein LOC84140; MGC129982; MGC129983; OTTHUMP00000201353; Protein FAM161A.
研究领域 : 细胞生物 免疫学
抗体来源 : Rabbit
克隆类型 : Polyclonal
交叉反应 : Human, Mouse, Rat, Dog,
产品应用 : WB=1:500-2000 ELISA=1:500-1000
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量 : 77kDa
细胞定位 : 细胞浆
性 状 : Lyophilized or Liquid
浓 度1mg/ml
免 疫 原 : KLH conjugated synthetic peptide derived from human FAM161A:301-400/660
亚 型 : IgG
纯化方法 : affinity purified by Protein A
储 存 液 : 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存条件 : Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.
PubMed : PubMed
产品介绍 : 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
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.