ACBD5

Chr 10

acyl-CoA binding domain containing 5

Also known as: RDLKD

NCBI Gene: 91452 ENSG00000107897 UniProt: Q5T8D3

The protein binds medium- and long-chain acyl-CoA esters and serves as the peroxisome receptor for pexophagy (selective autophagy of peroxisomes). Biallelic mutations cause retinal dystrophy with leukodystrophy, inherited in an autosomal recessive pattern. This gene is highly constrained against loss-of-function variants (LOEUF 0.53), reflecting its essential role in peroxisome homeostasis.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the acyl-Coenzyme A binding protein family, known to function in the transport and distribution of long chain acyl-Coenzyme A in cells. This gene may play a role in the differentiation of megakaryocytes and formation of platelets. A related protein in yeast is involved in autophagy of peroxisomes. A mutation in this gene has been associated with autosomal dominant thrombocytopenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtRetinal dystrophy with leukodystrophy

Clinical highlights

Gene-disease validity (ClinGen)

acyl-CoA binding domain containing protein 5 deficiency · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.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

0.53

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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