Source: hRBCD ; ID: IPI00014555
BGMUT ; ID: lan
Marked as 'Integral membrane protein'
Confidence: high (a blood group or CD marker) Search PubMed for
(RBC AND this entry)

Gene names: ABCB6 , MTABC3, PRP, UMAT
Protein names and data: ABCB6_HUMAN , ATP-binding cassette sub-family B member 6, mitochondrial , Mitochondrial ABC transporter 3; Mt-ABC transporter 3; P-glycoprotein-related protein; Ubiquitously-expressed mammalian ABC half transporter Lenght: 842 a.a.
Mass: 93886 Da
fasta formatted sequence

Function: Binds heme and porphyrins and functions in their ATP- dependent uptake into the mitochondria. Plays a crucial role in heme synthesis.
Cellular location: Cell membrane. Mitochondrion outer membrane; Multi-pass membrane protein. Endoplasmic reticulum. Golgi apparatus.
Tissue specificity: Widely expressed. High expression is detected in the retinal epithelium.

Genetic variants

Genetic variations in ABCB6 define the Langereis blood group system (LAN) [MIM:111600]. Individuals with Lan(-) blood group lack the Lan antigen on their red blood cells. These individuals may have anti-Lan antibodies in their serum, which can cause transfusion reactions or hemolytic disease of the fetus or newborn. The Lan(-) blood group is only clinically significant in transfusion settings or during pregnancy; otherwise Lan(-) individuals have no clinical features.

Database cross-references

UniProt: Q9NP58
Ensembl: ENST00000265316
Ensembl: ENST00000439002
MIM: 111600
MIM: 605452
MIM: 614497
neXtProt: NX_Q9NP58
Antibodypedia: Q9NP58 (may not find the protein thus also not any antibody)
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