2. Gene
  3. ACBD5 - acyl-CoA binding domain containing 5 Gene

ACBD5 - acyl-CoA binding domain containing 5 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as RDLKD

Gene ID: 91452 | Gene type: protein coding

About ACBD5

Cytogenetic location: 10p12.1 Genomic coordinates (GRCh38): 10:27,182,838-27,242,111 (from NCBI)

This gene has 29 transcripts (splice variants), 267 orthologues, 4 paralogues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 6.3), kidney (RPKM 5.9) and 25 other tissues.

Summary

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]

ACBD5 Products(28)

mRNA Protein Name
NM_001042473.4 NP_001035938.1 acyl-CoA-binding domain-containing protein 5 isoform 2
NM_001271512.3 NP_001258441.1 acyl-CoA-binding domain-containing protein 5 isoform 3
NM_001301251.2 NP_001288180.1 acyl-CoA-binding domain-containing protein 5 isoform 4
NM_001301252.2 NP_001288181.1 acyl-CoA-binding domain-containing protein 5 isoform 4
NM_001301253.2 NP_001288182.1 acyl-CoA-binding domain-containing protein 5 isoform 4
NM_001301254.2 NP_001288183.1 acyl-CoA-binding domain-containing protein 5 isoform 5
NM_001352568.1 NP_001339497.1 acyl-CoA-binding domain-containing protein 5 isoform 6
NM_001352569.1 NP_001339498.1 acyl-CoA-binding domain-containing protein 5 isoform 7
NM_001352570.1 NP_001339499.1 acyl-CoA-binding domain-containing protein 5 isoform 8
NM_001352571.1 NP_001339500.1 acyl-CoA-binding domain-containing protein 5 isoform 19
NM_001352572.1 NP_001339501.1 acyl-CoA-binding domain-containing protein 5 isoform 9
NM_001352573.1 NP_001339502.1 acyl-CoA-binding domain-containing protein 5 isoform 10
NM_001352574.2 NP_001339503.1 acyl-CoA-binding domain-containing protein 5 isoform 11
NM_001352575.2 NP_001339504.1 acyl-CoA-binding domain-containing protein 5 isoform 11
NM_001352576.2 NP_001339505.1 acyl-CoA-binding domain-containing protein 5 isoform 11
NM_001352577.2 NP_001339506.1 acyl-CoA-binding domain-containing protein 5 isoform 2
NM_001352578.2 NP_001339507.1 acyl-CoA-binding domain-containing protein 5 isoform 2
NM_001352579.2 NP_001339508.1 acyl-CoA-binding domain-containing protein 5 isoform 2
NM_001352580.2 NP_001339509.1 acyl-CoA-binding domain-containing protein 5 isoform 12
NM_001352581.1 NP_001339510.1 acyl-CoA-binding domain-containing protein 5 isoform 13
NM_001352582.2 NP_001339511.1 acyl-CoA-binding domain-containing protein 5 isoform 14
NM_001352583.1 NP_001339512.1 acyl-CoA-binding domain-containing protein 5 isoform 4
NM_001352584.1 NP_001339513.1 acyl-CoA-binding domain-containing protein 5 isoform 4
NM_001352585.1 NP_001339514.1 acyl-CoA-binding domain-containing protein 5 isoform 15
NM_001352586.1 NP_001339515.1 acyl-CoA-binding domain-containing protein 5 isoform 16
NM_001352587.1 NP_001339516.1 acyl-CoA-binding domain-containing protein 5 isoform 17
NM_001352588.1 NP_001339517.1 acyl-CoA-binding domain-containing protein 5 isoform 18
NM_145698.5 NP_663736.2 acyl-CoA-binding domain-containing protein 5 isoform 1

ACBD5 Protein Structure

ACBP

ACBP: Acyl CoA binding protein (42 - 128)

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  • 534 a.a.
Protein Preferred Names Protein Names

acyl-CoA-binding domain-containing protein 5

acyl-Coenzyme A binding domain containing 5

Related Diseases

Diseases Alias
Retinal Dystrophy With Leukodystrophy

RDLKD

Acbd5 Deficiency

Dystrophy, Retinal, With Leukodystrophy
Leukodystrophy

Leukodystrophies
Thrombocytopenia

Low Platelet Count

Low Platelets

Decreased Platelets

Platelet Dysfunction Nos
Spastic Paraparesis
Peroxisomal Disease

Peroxisomal Disorder

Peroxisomal Disorders

Peroxisomal Defects
Glass Syndrome

Chromosome 2q32-Q33 Deletion Syndrome

Satb2-Associated Syndrome

2q33.1 Microdeletion Syndrome

Sas

2q32-Q33 Microdeletion Syndrome

2q32q33 Microdeletion Syndrome

Monosomy 2q32

Monosomy 2q32-Q33

Monosomy 2q32q33

2q32 Deletion Syndrome

Del(2)(Q32)

Del(2)(Q32q33)

GLASS

2q32q33 Microdeletion Syndromes

Satb2 Syndrome

Satb2-Associated Syndrome Due To A Chromosomal Rearrangement

Del(2)(Q33.1)

Monosomy 2q33.1

Satb2-Associated Syndrome Due To A Pathogenic Variant

Satb2-Associated Syndrome Due To A Point Mutation

Satb2 Associated Disorder
Peroxisomal Biogenesis Disorder

Zellweger Spectrum Disorders

Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum

Disorders Of Peroxisome Biogenesis

Zellweger Spectrum

Zellweger Syndrome Spectrum

Peroxisomal Biogenesis Disorders

Pbd, Zss

Pbd-Zsd

Pbd-Zss

Pbd-Zellweger Spectrum Disorder

Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum

Peroxisome Biogenesis Disorder

Peroxisome Biogenesis Disorder Spectrum

Peroxisome Biogenesis Disorders

Zellweger Spectrum Disorder

Hyperpipecolic Acidaemia
Peroxisome Biogenesis Disorder 1b

Peroxisome Biogenesis Disorder

Infantile Refsum Disease

Infantile Phytanic Acid Storage Disease

PBD1B

Refsum Disease, Infantile

Adrenoleukodystrophy, Autosomal Neonatal

Ird

Mild Pbd-Zsd

Mild Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Pbd-Zsd

Peroxisome Biogenesis Disorder Spectrum

Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Autosomal Neonatal Adrenoleukodystrophy

Refsum Disease Infantile

Peroxisome Biogenesis Disorders

Peroxisome Biogenesis Disorder, Type 1b
Zellweger Syndrome

Cerebrohepatorenal Syndrome

Zellweger Leukodystrophy

Zs

Congenital Iron Overload

Chr

Zws

Severe Pbd-Zsd

Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS00143 ACBD5 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus ACBD5 VGNC VGNC:59502
Canis familiaris ACBD5 VGNC VGNC:37501
Mus musculus ACBD5 MGD MGI:1921409
Rattus norvegicus ACBD5 RGD RGD:1309411
Macaca mulatta ACBD5 VGNC VGNC:69509
Bos taurus ACBD5 VGNC VGNC:25532