SLC25A38; solute carrier family 25, member 38; FLJ20551; FLJ22703

For Research Use Only. Not for use in diagnostic procedures.

100ug of dried peptide

Shipped at ambient temperature, store at -20 degree C

Manufactured in an ISO 9001:2008 Certified Laboratory.

Small volumes of SLC25A38 blocking peptide vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

33,566 Da

solute carrier family 25 member 38

solute carrier family 25 member 38

Solute carrier family 25 member 38

S2538_HUMAN

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.[provided by RefSeq, Mar 2010]

SLC25A38: Mitochondrial carrier required during erythropoiesis. Probably involved in the biosynthesis of heme, possibly by facilitating 5-aminolevulinate (ALA) production. May act by importing glycine into mitochondria or by exchanging glycine for ALA across the mitochondrial inner membrane. Defects in SLC25A38 are a cause of anemia sideroblastic pyridoxine-refractory autosomal recessive (PRARSA). 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. Belongs to the mitochondrial carrier family. SLC25A38 subfamily.

Protein type: Transporter; Membrane protein, multi-pass; Mitochondrial; Membrane protein, integral; Transporter, SLC family

Chromosomal Location of Human Ortholog: 3p22.1

Cellular Component: integral to membrane; mitochondrial inner membrane

Molecular Function: structural constituent of ribosome; transporter activity

Biological Process: erythrocyte differentiation; heme biosynthetic process; translation; transport

Disease: Anemia, Sideroblastic, Pyridoxine-refractory, Autosomal Recessive

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