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No ABCB7 mutations were found among sixty CSA probands examined
data support a model in which cycloheximide -induced downregulation of the iron exporter ABCB7 mRNA transcript resulting from aberrant splicing caused by mutant SF3B1 underlies the increased mitochondrial iron accumulation found in MDS patients with ring sideroblasts
A missense mutation in the ABCB7 is a major causative factor of the cerebellar hypoplasia/atrophy found in affected individuals of a Buryat family who had no evidence of sideroblastic anemia.
findings support that ABCB7 is implicated in the phenotype of acquired RARS and suggest a relation between SF3B1 mutations and ABCB7 downregulation
We describe a fourth family with X-linked sideroblastic anemia and ataxia and a novel mutation in the ABCB7 gene
loss of the ABCB7 gene may be a pathogenetic factor underlying mitochondrial iron accumulation in RARS patients with idicXq13.
ABCB7 may have a role in refractory anemia with ring sideroblasts
ABC7 positively regulates the expression of extramitochondrial thioredoxin & that of an intramitochondrial iron-sulfur-containing protein, ferrochelatase. ABC7 contributes to the production of heme during the differentiation of erythroid cells.
Abcb7 is an essential gene associated with X-linked parent of origin lethality in mice and required for development or maintenance of adult cell lineages.
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a half-transporter involved in the transport of heme from the mitochondria to the cytosol. With iron/sulfur cluster precursors as its substrates, this protein may play a role in metal homeostasis. Mutations in this gene have been associated with mitochondrial iron accumulation and isodicentric (X)(q13) and sideroblastic anemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
, ATP-binding cassette, sub-family B, member 7
, ATP-binding cassette, sub-family B (MDR/TAP), member 7
, ATP-binding cassette sub-family B member 7, mitochondrial
, ATP-binding cassette sub-family B member 7, mitochondrial-like
, ABC transporter 7 protein
, ATP-binding cassette transporter 7
, ATP-binding cassette 7
, ATP-binding cassette, sub-family B, member 7, mitochondrial