AI & ChatGPT searches , social queriess for ABCA4
Search references for ABCA4. Phrases containing ABCA4
See searches and references containing ABCA4!
Search references for ABCA4. Phrases containing ABCA4
See searches and references containing ABCA4!ABCA4
Mammalian protein found in humans
A (ABC1), member 4, also known as ABCA4 or ABCR, is a protein which in humans is encoded by the ABCA4 gene. ABCA4 is a member of the ATP-binding cassette
ABCA4
Genetic form of macular degeneration
recessive inheritance pattern, which has been later linked to bi-allelic ABCA4 gene variants (STGD1). However, there are Stargardt-like diseases with mimicking
Stargardt_disease
Gradual retinal degeneration leading to progressive sight loss
RP13) PRPF3 (autosomal dominant, RP18) CRB1 (autosomal recessive, RP12) ABCA4 (autosomal recessive, RP19) RPE65 (autosomal recessive, RP20) For all other
Retinitis_pigmentosa
Degeneration of cone cells in the eye
rod dystrophy segregating with a loss-of-function mutation (E1087X) in ABCA4. Note the presence of various-shaped pigment deposits in the posterior pole
Cone_dystrophy
Physiological process
leave the opsin protein prior to its replacement, when it is bound to the ABCA4 protein (also known as ABCR). At this stage, it is also transformed to all-trans-retinol
Visual_cycle
Protein-coding gene in the species Homo sapiens
ABCA4 gene lacked functional or expression data to support it as the etiologic gene for nonsyndromic cleft lip/palate even though SNPs in the ABCA4 gene
ARHGAP29
Medical condition
because of two mutations arising simultaneously, one in RP1L1 and another in ABCA4. OMD is generally believed to be autosomal dominant, meaning that if you
Occult_macular_dystrophy
Pharmaceutical compound
macular degeneration (AMD). Stargardt disease is caused by a defect in the ABCA4 gene that clears toxic byproducts resulting from the dimerization of vitamin
Gildeuretinol
Protein-coding gene in the species Homo sapiens
(SNPs) among 13 genes encoding human ATP-binding cassette transporters: ABCA4, ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5
ABCG8
RP1, RP2, RPGR, PRPH2, IMPDH1, PRPF31, CRB1, PRPF8, TULP1, CA4, HPRPF3, ABCA4, EYS, CERKL, FSCN2, TOPORS, SNRNP200, PRCD, NR2E3, MERTK, USH2A, PROM1,
List_of_genetic_disorders
Experimental gene therapy
#601691), can involve a mutation in the ATP-binding cassette transporter 4 (ABCA4) gene. This gene contains 50 exons with a coding region spanning 6.7 kb
Retinal gene therapy using lentiviral vectors
Retinal_gene_therapy_using_lentiviral_vectors
related syndromes: TMEM216 cleft lip with and without cleft palate: MAFB and ABCA4 Schinzel–Giedion syndrome: SETBP1 Fanconi anemia and related disorders:
Malformative_syndrome
Gene family
that map to six different chromosomes. These are ABCA1, ABCA2, ABCA3, and ABCA4, ABCA7, ABCA12, and ABCA13. The other subgroup consists of ABCA5 and ABCA6
ABC_transporter
Water-soluble domain of transmembrane ABC transporters
of armI by a two-fold axis. ABCA1; ABCA10; ABCA12; ABCA13; ABCA2; ABCA3; ABCA4; ABCA5; ABCA6; ABCA7; ABCA8; ABCA9; ABCB1; ABCB10; ABCB11; ABCB4; ABCB5;
ATP-binding domain of ABC transporters
ATP-binding_domain_of_ABC_transporters
Sharon, Dror; Cremers, Frans P. M.; AlTalbishi, Alaa (27 April 2022). "ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron
Shapiro–Senapathy_algorithm
Topics referred to by the same term
ABCR can refer to : Akron Barberton Cluster Railway The ABCA4/ABCR gene implicated in some age-related macular degeneration This disambiguation page lists
ABCR
ABCA1 HGNC:29; O95477 32 ABCA2 HGNC:32; Q9BZC7 33 ABCA3 HGNC:33; Q99758 34 ABCA4 HGNC:34; P78363 35 ABCA5 HGNC:35; Q8WWZ7 36 ABCA6 HGNC:36; Q8N139 37 ABCA7
List of human protein-coding genes 1
List_of_human_protein-coding_genes_1
Protein-coding gene in the species Homo sapiens
(SNPs) among 13 genes encoding human ATP-binding cassette transporters: ABCA4, ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5
ABCA7
Malformation of the face
craniofacial clefting include FGFRs, TWIST, MSXs, GREM1, TCOF1, PAXs, MAFB, ABCA4, and WNT allowing great cause for more research into the genetic basis for
Craniofacial_cleft
Protein-coding gene in the species Homo sapiens
lip with and without cleft palate identifies risk variants near MAFB and ABCA4". Nat. Genet. 42 (6): 525–9. doi:10.1038/ng.580. PMC 2941216. PMID 20436469
VAX1
Protein-coding gene in the species Homo sapiens
(SNPs) among 13 genes encoding human ATP-binding cassette transporters: ABCA4, ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5
ABCD4
Protein found in humans
like Stargardt's disease and macular degeneration. An animal study using ABCA4 knockout mouse proved that reduction in serum RBP4 level could inhibit lipofuscin
Retinol_binding_protein_4
Protein-coding gene in the species Homo sapiens
(SNPs) among 13 genes encoding human ATP-binding cassette transporters: ABCA4, ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5
ABCA8
GUCA1A Cone–rod dystrophy 15; 613660; CDHR1 Cone–rod dystrophy 3; 604116; ABCA4 Cone–rod dystrophy 5; 600977; PITPNM3 Cone–rod dystrophy; 601777; GUCY2D
List_of_OMIM_disorder_codes
Protein-coding gene in the species Homo sapiens
lip with and without cleft palate identifies risk variants near MAFB and ABCA4". Nature Genetics. 42 (6): 525–9. doi:10.1038/ng.580. PMC 2941216. PMID 20436469
MAFB_(gene)
ABCA4
ABCA4
ABCA4
ABCA4
Female
English
English name derived from the vocabulary word aura, AURA means "subtle emanation around living beings," from Latin aura, meaning "air, breeze, wind," from Greek aura, meaning "breath, breeze."Â
Girl/Female
Hindu, Indian
Desire or Want
Surname or Lastname
English (East Anglia)
English (East Anglia) : from the Old French personal name Harduin, composed of the Germanic elements hard ‘hardy’, ‘brave’ + win ‘friend’.
Boy/Male
Indian
The watchful
Male
Egyptian
, an early astronomer.
Boy/Male
American, British, Celtic, Chinese, Christian, English, German, Hebrew, Indian, Irish, Jamaican
Narrow; Channel; Strait; Near the Chapel; A Place-name Referring to the Narrows; A Wood; A Church; Fair and Handsome; Crowned with Laurel; Victory; Slender
Girl/Female
Arabic, Muslim
Sweet Voice
Boy/Male
Hindu, Indian
Good Looking
Boy/Male
Hindu, Indian, Marathi
Divine Sun
Female
English
Variant spelling of English Jerry, JERRIE means "spear ruler."
ABCA4
ABCA4
ABCA4
ABCA4
ABCA4