ABCA9 - ATP binding cassette subfamily A member 9 Gene
Also Known as EST640918
Species: Homo sapiens
About ABCA9
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: ABC-2 family transporter protein (30 - 419)
ABC_tran: ABC transporter (500 - 646)
ABC2_membrane_3: ABC-2 family transporter protein (980 - 1219)
ABC_tran: ABC transporter (1310 - 1448)
- 0
- 300
- 600
- 900
- 1200
- 1500
- 1624 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
ATP-binding cassette sub-family A member 9 |
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Related Diseases
| Diseases | Alias | |
|---|---|---|
| Autosomal Recessive Congenital Ichthyosis |
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