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ABCC9

ABCC9

Protein-coding gene in humans

member 9 (ABCC9) also known as sulfonylurea receptor 2 (SUR2) is an ATP-binding cassette transporter that in humans is encoded by the ABCC9 gene. The

ABCC9

Cantú syndrome

Medical condition

described in the literature; they are associated with mutations in the ABCC9 (SUR2) and KCNJ8 (Kir6.1) genes, which encode subunits of ATP-sensitive

Cantú syndrome

Cantú_syndrome

Monolids

Human eyelid appearance

in East Asians. In addition, genetic variants near the BMP4 gene and the ABCC9 gene are also thought to be related to the depth and morphology of the eyelid

Monolids

Brugada syndrome

Heart conduction disease

sarcoplasmic reticulum – influences trafficking of NaV1.5. BrS13 601439 ABCC9 SUR2A, the adenosine triphosphate (ATP)-binding cassette transporter of

Brugada syndrome

Brugada_syndrome

Sulfonylurea receptor

gene, and SUR2A and SUR2B, which are splice variants arising from a single ABCC9 gene. The primary function of the sulfonylurea receptor is to sense intracellular

Sulfonylurea receptor

Sulfonylurea_receptor

Sleep

Naturally recurring resting state of mind and body

clock has its own set of genes. Genes which may influence sleep include ABCC9, DEC2, Dopamine receptor D2 and variants near PAX 8 and VRK2. While the

Sleep

Dilated cardiomyopathy

Condition involving an enlarged, ineffective heart

SGCD 5q33 CMD1M 607482 CSRP3 11p15.1 CMD1N 607487 TCAP 17q12 CMD1O 608569 ABCC9 12p12.1 CMD1P 609909 PLN 6q22.1 CMD1Q 609915 7q22.3-q31.1 CMD1R ACTC 15q14

Dilated cardiomyopathy

Dilated_cardiomyopathy

List of human cell types

principal cell Epididymal basal cell Endothelial cells circulatory system ABCC9, KCNJ8, RGS5 Planum semilunar epithelial cell of vestibular system of ear

List of human cell types

List_of_human_cell_types

ATP-binding domain of ABC transporters

Water-soluble domain of transmembrane ABC transporters

ABCC1; ABCC10; ABCC11; ABCC12; ABCC2; ABCC3; ABCC4; ABCC5; ABCC6; ABCC8; ABCC9; ABCD1; ABCD2; ABCD3; ABCD4; ABCE1; ABCF1; ABCF2; ABCF3; ABCG1; ABCG2; ABCG4;

ATP-binding domain of ABC transporters

ATP-binding_domain_of_ABC_transporters

Benign early repolarization

Medical condition

with ER and ATP sensitive potassium current channel mutations are KCNJ8, ABCC9 Others associated with transient outward potassium current - KCNE5, DPP10

Benign early repolarization

Benign_early_repolarization

ATP-sensitive potassium channel

Family of transport proteins

Hodgson DM, Zingman LV, Pang YP, Alekseev AE, Terzic A (April 2004). "ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP

ATP-sensitive potassium channel

ATP-sensitive_potassium_channel

Limbic-predominant age-related TDP-43 encephalopathy

Form of dementia

factors for LATE-NC are genetic: variations in the TMEM106B, GRN, APOE, ABCC9, KCNMB2, TPCN1, TMEM68, and WWOX genes have been linked to altered risk

Limbic-predominant age-related TDP-43 encephalopathy

Limbic-predominant_age-related_TDP-43_encephalopathy

Transmembrane domain of ABC transporters

Main transmembrane structural unit of ATP-binding cassette transporter proteins

ABCC10; ABCC11; ABCC12; ABCC13; ABCC2; ABCC3; ABCC4; ABCC5; ABCC6; ABCC8; ABCC9; CFTR; TAP1; TAP2; TAPL; Kerr ID (2002). "Structure and association of ATP-binding

Transmembrane domain of ABC transporters

Transmembrane_domain_of_ABC_transporters

List of OMIM disorder codes

Cardiomyopathy, dilated, 1N; 607487; TCAP Cardiomyopathy, dilated, 1O; 608569; ABCC9 Cardiomyopathy, dilated, 1P; 609909; PLN Cardiomyopathy, dilated, 1R; 613424;

List of OMIM disorder codes

List_of_OMIM_disorder_codes

List of human protein-coding genes 1

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 HGNC:14639; Q96J66 62

List of human protein-coding genes 1

List_of_human_protein-coding_genes_1