RBCC Red Blood Cell Collection

ABCB6_HUMAN

Source: hRBCD ; ID: IPI00014555
PM19886704
PM23856902
BGMUT ; ID: lan
BSc_CH
PM22954596
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.
Disease: ( OMIM: 111600 605452 614497 ) Microphthalmia, isolated, with coloboma, 7 (MCOPCB7) [MIM:614497]: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). Note=The disease is caused by mutations affecting the gene represented in this entry.
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.

57 - 57 A -> T (in MCOPCB7; hypomorphic mutation). VAR_067394
69 - 69 R -> G (in a breast cancer sample; somatic mutation). VAR_035732
293 - 293 L -> V (in dbSNP:rs13018440). VAR_047552 13018440
343 - 343 R -> Q (in dbSNP:rs60322991). VAR_060986 60322991
648 - 648 R -> Q (in dbSNP:rs13402964). VAR_029749 13402964
811 - 811 L -> V (in MCOPCB7; hypomorphic mutation). VAR_067395

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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