Atp Binding Cassette 7

From Anvita Health Wiki

Contents 1 Function 2 Structure 3 Compartment 4 Alternative-splicing 5 Pathology 6 More General Terms 7 Additional Terms 8 Internet Database 9 References

Function

• could be involved in the transport of heme from the mitochondria to the cytosol
• plays a central role in the maturation of cytosolic iron- sulfur ( Fe/S) cluster-containing proteins

Structure

• homodimer or heterodimer ( putative)
• belongs to the ABC transporter family, heavy Metal importer (TC 3.A.1.210) subfamily
• contains 1 ABC transmembrane type-1 domain
• contains 1 ABC transporter domain

Compartment

• mitochondrial inner membrane

Alternative-splicing

• named isoforms=2

Pathology

• defects in ABCB7 are the cause of X-linked sideroblastic anemia with ataxia

More General Terms

• ATP-binding cassette sub-family B (ABC transporter-B, ABCB)
• mitochondrial protein

Additional Terms

• X-linked sideroblastic anemia & ataxia

Internet Database

Kegg: [1]
OMIM: 300135
OMIM: 301310
Prosite: [2]
Prosite: [3]
Prosite: [4]
UniProt: [5]
Entrez gene: 22

References

1. UniProt [6]
2. GeneReviews [7]

ATP-binding cassette sub-family B member 7, mitochondrial; ATP-binding cassette transporter 7; ABC transporter 7 protein (ABCB7 ABC7)