ABCA9 - ATP binding cassette subfamily A member 9 Gene

Also Known as EST640918

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10350

About ABCA9

Cytogenetic location: 17q24.2 Genomic coordinates (GRCh38): 17:68,974,488-69,078,977 (from NCBI)

This gene has 8 transcripts (splice variants), 105 orthologues and 11 paralogues. Broad expression in ovary (RPKM 11.3), fat (RPKM 8.9) and 17 other tissues.

Summary

This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two transmembrane domains and two nucleotide binding folds. 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 gene is a member of the ABC1 subfamily and is clustered with four Other ABC1 family members on chromosome 17q24. Transcriptional expression of this gene is induced during monocyte differentiation into macrophages and is suppressed by Cholesterol import. [provided by RefSeq, Jul 2008]

ABCA9 Products (1)

mRNA Protein Name
NM_080283.4 NP_525022.2 ATP-binding cassette sub-family A member 9

ABCA9 Protein Structure

ABC2_membrane_3

ABC2_membrane_3: ABC-2 family transporter protein (30 - 419)

ABC_tran

ABC_tran: ABC transporter (500 - 646)

ABC2_membrane_3

ABC2_membrane_3: ABC-2 family transporter protein (980 - 1219)

ABC_tran

ABC_tran: ABC transporter (1310 - 1448)

  • 0
  • 300
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  • 1500
  • 1624 a.a.
Protein Preferred Names Protein Names

ATP-binding cassette sub-family A member 9

  • ATP-binding cassette A9

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

Orthologs Information

Species Symbol Source ID
Macaca mulatta ABCA9 VGNC VGNC:99111
Felis catus ABCA9 VGNC VGNC:59468
Bos taurus ABCA9 VGNC VGNC:50181
Mus musculus ABCA9 MGD MGI:2386796
Rattus norvegicus ABCA9 RGD RGD:1305931