ABCB6: ATP Binding Cassette Subfamily B Member 6
A mitochondrial porphyrin transporter involved in heme biosynthesis, drug resistance, and genetic disorders.
Gene Information Card
| Symbol | ABCB6 |
|---|---|
| Full Name | ATP binding cassette subfamily B member 6 (Langereis blood group) |
| Gene Type | Protein coding |
| Chromosomal Location | 2q35 |
| NCBI Gene ID | 10058 ncbi.nlm.nih.gov/gene/10058 |
| Ensembl ID | ENSG00000115657 |
| UniProt ID | Q9NP58 |
| OMIM ID | 605452 |
| HGNC ID | 47 |
| Aliases | MTABC3, PRP, Lan, umat |
Description
ABCB6 encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The protein localizes to the mitochondrial outer membrane and functions as a porphyrin transporter, playing a critical role in heme biosynthesis. It also determines the Lan blood group antigen. Mutations in ABCB6 are associated with dyschromatosis universalis hereditaria, familial pseudohyperkalemia, and Lan-negative blood phenotype. The gene is implicated in drug resistance in cancer cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dyschromatosis universalis hereditaria | Missense mutations impair porphyrin transport leading to abnormal pigmentation | OMIM #615402 |
| Familial pseudohyperkalemia | Gain-of-function mutations cause potassium leak from red cells | OMIM %609153 |
| Lan-negative blood group phenotype | Loss-of-function variants abolish Lan antigen expression | ClinVar, Blood (2012) |
| Colorectal cancer | Overexpression associated with chemoresistance | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Heart | 6.1 | Low |
| Skeletal muscle | 4.2 | Low |
| Bone marrow | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma |
| K562 | 9.7 | Chronic myeloid leukemia |
| A549 | 7.4 | Lung adenocarcinoma |
| MCF7 | 5.1 | Breast adenocarcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1060G>A (p.Ala354Thr) | Missense | Rare | Associated with dyschromatosis universalis hereditaria |
| c.2177G>A (p.Arg726Gln) | Missense | Rare | Familial pseudohyperkalemia |
| c.1162C>T (p.Arg388Trp) | Missense | Rare | Lan-negative blood group |
| c.1313G>A (p.Arg438His) | Missense | Rare | Dyschromatosis universalis hereditaria |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and missense variants (e.g., p.Arg388Trp) that disrupt porphyrin transport or mitochondrial localization, leading to Lan-negative phenotype or pigmentation disorders.
Gain of Function (GOF)
Missense mutations (e.g., p.Arg726Gln) that increase potassium efflux from red blood cells, causing familial pseudohyperkalemia.
Dominant Negative (DN)
Not clearly documented; most disease-associated mutations are autosomal recessive or dominant with incomplete penetrance.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Heme biosynthesis
• ABC transporter family
• Porphyrin and chlorophyll metabolism (KEGG: hsa00860)
Protein Summary
ABCB6 is a 842-amino acid mitochondrial outer membrane protein belonging to the ABC transporter family. It functions as a homodimer to transport porphyrins (e.g., coproporphyrin III) into mitochondria for heme synthesis. The protein also carries the Lan blood group antigen. Structural studies reveal a nucleotide-binding domain (NBD) and transmembrane domain (TMD) typical of ABC exporters. Mutations in the NBD or TMD impair transport activity, leading to pigmentation defects or red cell abnormalities.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABCB6 Knockout HEK293 Cell Line | EDJ-KQ6880 | Human | 10058 | Details Get a Quote |
| ABCB6 Knockout A-549 Cell Line | EDJ-KQ31473 | Human | 10058 | Details Get a Quote |
| ABCB6 Knockout HCT 116 Cell Line | EDJ-KQ31474 | Human | 10058 | Details Get a Quote |
| ABCB6 Knockout HeLa Cell Line | EDJ-KQ31475 | Human | 10058 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
