ABCA5 Chromosome 17
ATP binding cassette subfamily A member 5
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What This Gene Does
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, but neither the substrate nor the function of this gene is known. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
ATP binding cassette subfamily A
Locus Type
gene with protein product
Location
17q24.3
Ensembl
ENSG00000154265
Associated Conditions (2)
See cases
Gingival fibromatosis-hypertrichosis syndrome
Key Variants
RS2144972355
Likely pathogenic
See cases, See cases
Health Risk
RS372523620
Likely pathogenic
Gingival fibromatosis-hypertrichosis syndrome, Gingival fibromatosis-hypertrichosis syndrome
Health Risk
RS747667004
Likely pathogenic
Gingival fibromatosis-hypertrichosis syndrome, Gingival fibromatosis-hypertrichosis syndrome
Health Risk
RS767829190
Likely pathogenic
Gingival fibromatosis-hypertrichosis syndrome, Gingival fibromatosis-hypertrichosis syndrome
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2144972355 | Health Risk | Likely pathogenic | See cases, See cases |
| RS372523620 | Health Risk | Likely pathogenic | Gingival fibromatosis-hypertrichosis syndrome, Gingival fibromatosis-hypertrichosis syndrome |
| RS747667004 | Health Risk | Likely pathogenic | Gingival fibromatosis-hypertrichosis syndrome, Gingival fibromatosis-hypertrichosis syndrome |
| RS767829190 | Health Risk | Likely pathogenic | Gingival fibromatosis-hypertrichosis syndrome, Gingival fibromatosis-hypertrichosis syndrome |