ABCB7

Chr XX-linked

ATP binding cassette subfamily B member 7

Also known as: ABC7, ASAT, Atm1p, EST140535

NCBI Gene: 22 ENSG00000131269 UniProt: O75027 OMIM: 300135

The protein exports iron-sulfur clusters from mitochondria to cytosol in an ATP-dependent manner and participates in iron homeostasis and heme biosynthesis. Loss-of-function mutations cause X-linked sideroblastic anemia with ataxia due to impaired iron-sulfur cluster biogenesis and disrupted cellular iron homeostasis. The gene is highly intolerant to loss-of-function variation, consistent with X-linked inheritance.

OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a half-transporter involved in the transport of heme from the mitochondria to the cytosol. With iron/sulfur cluster precursors as its substrates, this protein may play a role in metal homeostasis. Mutations in this gene have been associated with mitochondrial iron accumulation and isodicentric (X)(q13) and sideroblastic anemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Anemia, sideroblastic, with ataxiaMIM #301310

X-linked

UniProtSpinocerebellar ataxia, X-linked 6, with or without sideroblastic anemia

Clinical highlights

Gene-disease validity (ClinGen)

mitochondrial disease · XLModerateconsider for supplementary testing

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.11

LOEUF· LoF intol.

LOF

Mechanism· predicted