ABCA6 - ATP binding cassette subfamily A member 6 Gene

Also Known as EST155051

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23460

About ABCA6

Cytogenetic location: 17q24.2-q24.3 Genomic coordinates (GRCh38): 17:69,062,044-69,141,895 (from NCBI)

This gene has 7 transcripts (splice variants), 124 orthologues and 11 paralogues. Broad expression in liver (RPKM 14.4), urinary bladder (RPKM 9.9) and 19 other tissues.

Summary

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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 Other ABC1 family members on 17q24 and may play a role in macrophage lipid homeostasis. [provided by RefSeq, Jul 2008]

ABCA6 Products (1)

mRNA Protein Name
NM_080284.3 NP_525023.2 ATP-binding cassette sub-family A member 6

Gene Ontology

  • Cellular Component
Cellular Component GO Annotation Evidence References Source
located in Golgi membrane IDA
IDA: Inferred from direct assay
24028821 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
23137377 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ABCA6 Protein Structure

ABC2_membrane_3

ABC2_membrane_3: ABC-2 family transporter protein (30 - 416)

ABC_tran

ABC_tran: ABC transporter (497 - 642)

ABC2_membrane_3

ABC2_membrane_3: ABC-2 family transporter protein (912 - 1167)

ABC_tran

ABC_tran: ABC transporter (1304 - 1440)

  • 0
  • 300
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  • 1500
  • 1617 a.a.
Protein Preferred Names Protein Names

ATP-binding cassette sub-family A member 6

  • ABC transporter ABCA6

Related Diseases

Diseases Alias
Autosomal Recessive Congenital Ichthyosis

  • Lamellar Ichthyosis

  • Congenital Ichthyosiform Erythroderma

  • Li

  • Congenital Nonbullous Ichthyosiform Erythroderma

  • Arci

  • Congenital Lamellar Ichthyosis

  • Nonbullous Congenital Ichthyosiform Erythroderma

  • Cie

  • Congenital Non-Bullous Ichthyosiform Erythroderma

  • Erythrodermic Ichthyosis

  • Nbcie

  • Ncie

  • Non-Bullous Congenital Ichthyosiform Erythroderma

  • Collodion Baby

  • Ichthyosis, Lamellar

  • Non Bullous Congenital Ichthyosiform Erythroderma

  • Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form

  • Ichthyosiform Erythroderma, Congenital, Nonbullous, 1

  • Collodion Baby Syndrome

  • Ichthyoses, Lamellar

  • Nbie

  • Nonbullous Ichthyosiform Erythroderma

  • Classic Lamellar Ichthyosis

  • Ichthyosiform Erythroderma Nonbullous Congenital

  • Ichthyosiform Erythroderma Congenital

  • Ichthyosis, Congenital, Autosomal Recessive

  • Ichthyosiform Erythroderma, Congenital

  • Collodion Fetus

  • Non-Bullous Ichthyosiform Erythroderma
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

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS00044 ABCA6 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus ABCA6 VGNC VGNC:25460
Mus musculus ABCA6 MGD MGI:1923434
Felis catus ABCA6 VGNC VGNC:59466
Rattus norvegicus ABCA6 RGD RGD:1308998
Macaca mulatta ABCA6 VGNC VGNC:99110
Others ABCA6 NCBI