BLOC1S3 抗体
(Biogenesis of Lysosomal Organelles Complex-1, Subunit 3 (BLOC1S3))
This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. [provided by RefSeq, Jul 2008].
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13 results
BLOC1S3
适用: 人, 小鼠, 大鼠, Cow, 犬, 山羊, 豚鼠, 马, 绵羊, 斑马鱼
WB
宿主: 兔
Polyclonal
unconjugated
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Latest Publications for our BLOC1S3 抗体
: "Genome-wide analysis of genetic loci associated with Alzheimer disease." in: JAMA : the journal of the American Medical Association, Vol. 303, Issue 18, pp. 1832-40, (2010) (PubMed).: "A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8)." in: American journal of human genetics, Vol. 78, Issue 1, pp. 160-6, (2005) (PubMed).
: "Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1)." in: The Journal of biological chemistry, Vol. 279, Issue 27, pp. 28393-401, (2004) (PubMed).
Aliases for BLOC1S3 抗体
biogenesis of lysosomal organelles complex 1 subunit 3 (BLOC1S3) 抗体biogenesis of lysosomal organelles complex-1, subunit 3 (BLOC1S3) 抗体
biogenesis of lysosomal organelles complex-1, subunit 3 (Bloc1s3) 抗体
BC043666 抗体
BLOS3 抗体
Blos3 抗体
E230011O18 抗体
HPS8 抗体
RP 抗体
rp 抗体
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