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See searches and references containing ABCC8!ABCC8
Protein-coding gene in the species Homo sapiens
sub-family C member 8 is a protein that in humans is encoded by the ABCC8 gene. ABCC8 orthologs have been identified in all mammals for which complete genome
ABCC8
Medical condition
inherit two copies of the faulty ABCC8/KCNJ11 gene, one from each parent. Recessively inherited changes in the ABCC8/KCNJ11 genes cause diffuse HI which
Congenital_hyperinsulinism
Three forms of the sulfonylurea receptor are known, SUR1 encoded by the ABCC8 gene, and SUR2A and SUR2B, which are splice variants arising from a single
Sulfonylurea_receptor
Medical condition
which is also present in pancreatic islet cells. Very rare. ABCC8-MODY MODY 12 621196 ABCC8 encodes the sulfonylurea receptor 1 (SUR1) subunit of the ATP-sensitive
Maturity-onset diabetes of the young
Maturity-onset_diabetes_of_the_young
Autosomal recessive conditions that affect ethnic Jews more frequently
hyperinsulinism Gastroenterology, endocrinology, pediatrics Autosomal recessive ABCC8 1/125–1/160 Fanconi anemia C Hematology Autosomal recessive FACC 1/100 Gaucher
Medical_genetics_of_Jews
Medical condition
variant results in disease. This is the case for the KATP genes KCNJ11 and ABCC8, and paternally inherited 6q24 amplifications, any of which have a 50% chance
Neonatal_diabetes
Medical condition
Type OMIM Gene Locus HHF1 256450 ABCC8 11p15.1 HHF2 601820 KCNJ11 11p15.1 HHF3 602485 GCK 7p15-p13 HHF4 609975 HADH 4q22-q26 HHF5 609968 INSR 19p13.2
Hyperinsulinemic_hypoglycemia
Enzyme
in either ABCC8, which encodes the protein SUR1, or KCNJ11, which encodes the protein Kir6.2. In the Ashkenazi Jewish population, two ABCC8 founder mutations
Glutamate_dehydrogenase_1
Water-soluble domain of transmembrane ABC transporters
ABCB9; ABCC1; ABCC10; ABCC11; ABCC12; ABCC2; ABCC3; ABCC4; ABCC5; ABCC6; ABCC8; ABCC9; ABCD1; ABCD2; ABCD3; ABCD4; ABCE1; ABCF1; ABCF2; ABCF3; ABCG1; ABCG2;
ATP-binding domain of ABC transporters
ATP-binding_domain_of_ABC_transporters
Medical condition
et al. (May 2008). "A mutation (R826W) in nucleotide-binding domain 1 of ABCC8 reduces ATPase activity and causes transient neonatal diabetes". EMBO Rep
Transient_neonatal_diabetes
Experimental anti-diabetic drug
of action from sulfonylureas, which target the sulfonylurea receptor 1 (ABCC8). Additionally, RX871024 mobilizes calcium from intracellular, thapsigargin-sensitive
RX871024
Protein-coding gene in the species Homo sapiens
S (Jan 2013). "Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon
Hydroxyacyl-Coenzyme A dehydrogenase
Hydroxyacyl-Coenzyme_A_dehydrogenase
Protein-coding gene in the species Homo sapiens
identified as an endogenous ligand for the sulfonylurea receptor, ABCC8/SUR1. ABCC8 is the regulatory subunit of the ATP-sensitive potassium (KATP) channel
ENSA_(gene)
the regulation of those gene expressions. Only few genes (PARG6, KCNJ11-ABCC8, SLC30A8, and GCKR) have SNPs in the open reading frame (ORF). These SNPs
Genetic causes of type 2 diabetes
Genetic_causes_of_type_2_diabetes
Main transmembrane structural unit of ATP-binding cassette transporter proteins
ABCC1; ABCC10; ABCC11; ABCC12; ABCC13; ABCC2; ABCC3; ABCC4; ABCC5; ABCC6; ABCC8; ABCC9; CFTR; TAP1; TAP2; TAPL; Kerr ID (2002). "Structure and association
Transmembrane domain of ABC transporters
Transmembrane_domain_of_ABC_transporters
hypothyroidism; 610199; GLIS3 Diabetes mellitus, noninsulin-dependent; 125853; ABCC8 Diabetes mellitus, noninsulin-dependent; 125853; HNF1B Diabetes mellitus
List_of_OMIM_disorder_codes
Family of transport proteins
ATP-binding cassette, sub-family C (CFTR/MRP), member 8 Identifiers Symbol ABCC8 Alt. symbols SUR1 NCBI gene 6833 HGNC 59 OMIM 600509 RefSeq NM_000352 UniProt
ATP-sensitive potassium channel
ATP-sensitive_potassium_channel
Medical condition
diabetes of the young (MODY). It can be associated with GCK, KCNJ11, INS, and ABCC8. This results in congenital impairment of insulin release, although in the
Permanent_neonatal_diabetes
ABCC4 HGNC:55; O15439 56 ABCC5 HGNC:56; O15440 57 ABCC6 HGNC:57; O95255 58 ABCC8 HGNC:59; Q09428 59 ABCC9 HGNC:60; O60706 60 ABCC10 HGNC:52; Q5T3U5 61 ABCC11
List of human protein-coding genes 1
List_of_human_protein-coding_genes_1
Protein-coding gene in the species Homo sapiens
the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism". Human Mutation. 27 (3): 220–231
Kir6.2
ABCC8
ABCC8
ABCC8
ABCC8
Girl/Female
Hindu, Indian, Traditional
Union
Female
Egyptian
, the wife of Nefer-heb-ef.
Male
English
Anglicized form of Greek Zebedaios, ZEBEDEE means "my gift." In the New Testament bible, this is the name of a fisherman of Galilee.Â
Girl/Female
Arabic, Muslim
Bin Mabad RA had this Name
Girl/Female
Latin
Pure.
Girl/Female
Hindu
An ancient city of india
Boy/Male
American, British, English
Lives at the Buck Meadow
Girl/Female
Tamil
Pratyaya | பà¯à®°à®¤à¯à®¯à®¾à®¯
Perception, Thought, Intention
Boy/Male
Tamil
Shanmukha Sundaram | ஷாநà¯à®®à¯à®•à®¾ ஸà¯à®¨à¯à®¤à®°à®®Â
Lord Murugan
Boy/Male
Muslim
The most kind, The clement
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8