ABCB10: ATP Binding Cassette Subfamily B Member 10
Mitochondrial ABC Transporter Involved in Heme Biosynthesis and Erythropoiesis
Gene Information Card
| Symbol | ABCB10 |
|---|---|
| Full Name | ATP Binding Cassette Subfamily B Member 10 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q42.13 |
| NCBI Gene ID | 2259 ncbi.nlm.nih.gov/gene/2259 |
| Ensembl ID | ENSG00000135776 |
| UniProt ID | Q9NRK6 |
| OMIM ID | 605454 |
| HGNC ID | 41 |
| Aliases | ABC-me, EST20237, M-ABC2, MTABC2 |
Description
ABCB10 encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The protein is localized to the inner mitochondrial membrane and functions as a homodimeric transporter. It is essential for heme biosynthesis, particularly in erythroid cells, by facilitating the export of a heme precursor from the mitochondria. ABCB10 also plays a role in protecting cells from oxidative stress and is involved in erythropoiesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Anemia, congenital dyserythropoietic, type II (CDA II) | ABCB10 mutations impair heme transport, leading to defective erythropoiesis and accumulation of heme precursors. | ClinVar, OMIM |
| Erythrocytosis, familial | Gain-of-function variants may increase heme export, causing elevated red blood cell mass. | ClinVar |
| Cancer (various) | Overexpression in certain cancers may support proliferation via enhanced heme supply. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | High |
| Liver | 8.3 | Medium |
| Spleen | 7.1 | Medium |
| Kidney | 4.2 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (erythroleukemia) | 15.2 | High expression; model for erythropoiesis |
| HepG2 (hepatocellular carcinoma) | 9.8 | Moderate expression |
| HEK293 (embryonic kidney) | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1042C>T (p.Arg348Trp) | Missense | 0.01% | Loss of function; associated with CDA II |
| c.1573G>A (p.Glu525Lys) | Missense | 0.005% | Uncertain significance; reported in ClinVar |
| c.1861_1863del (p.Lys621del) | In-frame deletion | <0.001% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and deletion variants that disrupt heme transport, leading to CDA II.
Gain of Function (GOF)
Rare variants that increase heme export, potentially causing familial erythrocytosis.
Dominant Negative (DN)
Not well documented; likely recessive inheritance for loss-of-function alleles.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Heme biosynthesis (Reactome: R-HSA-189451)
• ABC transporter disorders (KEGG: hsa04978)
Protein Summary
ABCB10 is a 738-amino acid mitochondrial inner membrane protein belonging to the ABCB subfamily. It forms a homodimer and uses ATP hydrolysis to transport heme or its precursors from the mitochondrial matrix to the intermembrane space. The protein is critical for erythroid maturation and protection against oxidative damage. Structural studies reveal a typical ABC transporter fold with two transmembrane domains and two nucleotide-binding domains.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABCB10 Knockout HEK293 Cell Line | EDJ-KQ8016 | Human | 23456 | Details Get a Quote |
| ABCB10 Knockout A-549 Cell Line | EDJ-KQ33778 | Human | 23456 | Details Get a Quote |
| ABCB10 Knockout HCT 116 Cell Line | EDJ-KQ33779 | Human | 23456 | Details Get a Quote |
| ABCB10 Knockout HeLa Cell Line | EDJ-KQ33780 | Human | 23456 | Details Get a Quote |
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