rs1564574359
This variant is located in the ACBD5 gene.
▶ClinVar annotation
About ACBD5
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]
View all ACBD5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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