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Rabbit Anti-SLC25A38 Recombinant Antibody (CBXS-1234) (CBMAB-S4095-CQ)


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Summary

Host Animal
Rabbit
Specificity
Human
Clone
CBXS-1234
Antibody Isotype
IgG
Application
WB

Basic Information

Specificity
Human
Antibody Isotype
IgG
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
Solute Carrier Family 25 Member 38
Introduction
This gene is a member of the mitochondrial carrier family. The encoded protein is required during erythropoiesis and is important for the biosynthesis of heme. Mutations in this gene are the cause of autosomal congenital sideroblastic anemia (anemia, sideroblastic, 2, pyridoxine-refractory). A related pseudogene is found on chromosome 1.
Entrez Gene ID
54977
UniProt ID
Q96DW6
Alternative Names
Solute Carrier Family 25 Member 38; Solute Carrier Family 25, Member 38; Appoptosin; SIDBA2;
Function
Mitochondrial glycine transporter that imports glycine into the mitochondrial matrix. Plays an important role in providing glycine for the first enzymatic step in heme biosynthesis, the condensation of glycine with succinyl-CoA to produce 5-aminolevulinate (ALA) in the mitochondrial matrix. Required during erythropoiesis.
Plays a role as pro-apoptotic protein that induces caspase-dependent apoptosis.
Biological Process
Biological Process erythrocyte differentiationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process glycine import into mitochondrionManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process heme biosynthetic processManual Assertion Based On ExperimentTAS:UniProtKB
Cellular Location
Mitochondrion inner membrane
Involvement in disease
Anemia, sideroblastic, 2, pyridoxine-refractory (SIDBA2):
A form of sideroblastic anemia not responsive to pyridoxine. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus.
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For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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