ABCB6

Chr 2q35

ATP binding cassette subfamily B member 6 (LAN blood group)

Aliases:: EST45597, umat, MTABC3
MANE:: ENST00000265316.9

OMIM: 605452 ↗NCBI: 10058 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

ABCB6 · Q9NP58

v62025-08-01

Predicted Aligned Error matrix for ABCB6 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

83.1/ 100

Confident

842 residues

Confidence breakdown

Very high(≥ 90)42%
Confident(70–90)44%
Low(50–70)8%
Very low(< 50)6%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Pigmentary skin disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia or microphthalmia
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mitochondrial disorders
Ocular coloboma

Disease associations (Open Targets)

dyschromatosis universalis hereditaria 3
0.78
familial pseudohyperkalemia
0.69
microphthalmia, isolated, with coloboma 7
0.66
Dyschromatosis universalis
0.58
dyschromatosis universalis hereditaria
0.47
microphthalmia, isolated, with coloboma
0.46
microphthalmia
0.37
coloboma of iris
0.37
coloboma of eyelid
0.37
coloboma of macula
0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

ATP-binding cassette sub-family B member 6

ATP-dependent transporter that catalyzes the transport of a broad-spectrum of porphyrins from the cytoplasm to the extracellular space through the plasma membrane or into the vesicle lumen (PubMed:17661442, PubMed:23792964, PubMed:27507172, PubMed:33007128). May also function as an ATP-dependent importer of porphyrins from the cytoplasm into the mitochondria, in turn may participate in the de novo heme biosynthesis regulation and in the coordination of heme and iron homeostasis during phenylhydrazine stress (PubMed:10837493, PubMed:17006453, PubMed:23792964, PubMed:33007128). May also play a key role in the early steps of melanogenesis producing PMEL amyloid fibrils (PubMed:29940187). In vitro, it confers to cells a resistance to toxic metal such as arsenic and cadmium and against chemotherapeutics agent such as 5-fluorouracil, SN-38 and vincristin (PubMed:21266531, PubMed:25202056, PubMed:31053883). In addition may play a role in the transition metal homeostasis (By similarity)