ABCA4
protein-coding gene in the species Homo sapiens
Facts
13 properties- Instance of
- gene
- Subclass of
- protein-coding gene
- Chromosome
- human chromosome 1[12]
- Cytogenetic location
- 1p22.1[20]
- Expressed in
- retinal pigment epithelium, gonad, testicle, right uterine tube, Epithelium of choroid plexus, tail of epididymis, corpus epididymis, right lobe of liver, skin of abdomen, jejunal mucosa[21][22][23][24][25][26][27][28][29][30]
- Found in taxon
- Homo sapiens[11]
- Genetic association
- Stargardt disease, age related macular degeneration 2, cone-rod dystrophy 3, retinitis pigmentosa 19, age related macular degeneration, cone-rod dystrophy[13][14][15][16][17][18]
- HomoloGene ID
- 298[3]
- Strand orientation
- reverse strand[19]
🏷️ Also known as
en Abc10
en ABCA4
en Abcr
en ARMD2
en ATP binding cassette subfamily A member 4
en AW050280
en CORD3
en D430003I15Rik
en FFM
en RmP
en RP19
en STGD
en STGD1
🔖 Identifiers · 10
- Encyclopædia Britannica Online ID
- topic/ABCA4
- Ensembl gene ID
- ENSG00000198691
- Ensembl transcript ID
- ENST00000370225, ENST00000460514, ENST00000465352, ENST00000470771, ENST00000472033, ENST00000484388, ENST00000649773
- Entrez Gene ID
- 24
- Exact match
- identifiers.org
- HGNC ID
- 34
- HGNC gene symbol
- ABCA4
- OMIM ID
- 601691
- RefSeq RNA ID
- NM_000350, XM_047416704
- UMLS CUI
- C1412063
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