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Search references for CLCN1. Phrases containing CLCN1
See searches and references containing CLCN1!CLCN1
Protein-coding gene in humans
family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics
CLCN1
Genetic disorder causing muscles to delay relaxing after contraction
humans by loss-of-function mutations in the gene CLCN1. This is the gene encoding the protein CLCN1, that forms the ClC-1 chloride channel, critical for
Myotonia_congenita
American breed of meat goat
channel in the muscles of the skeleton (skeletal muscle chloride channel 1, CLCN1). Congenital myotonia can be inherited as an autosomal dominant trait (with
Fainting_goat
Class of transport proteins
other types of anion channels. Three CLC subfamilies are found in animals. CLCN1 is involved in setting and restoring the resting membrane potential of skeletal
Chloride_channel
Breed of pony native to the British Isles
affected foal was homozygous for a missense mutation in the gene encoding CLCN1, a protein which regulates the excitability of the skeletal muscle. The
New_Forest_pony
Type of drug
Another example is anthracene-9-carboxylic acid, a potent blocker of the CLCN1-type chloride channel found in skeletal muscle, which is used to study animal
Chloride_channel_blocker
Protein-coding gene in humans
family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics
CLCN6
608390; SCN4A Myotonia congenita, dominant; 160800; CLCN1 Myotonia congenita, recessive; 255700; CLCN1 Myotonic dystrophy; 160900; DMPK Myotonic dystrophy
List_of_OMIM_disorder_codes
Medical condition
protein. CLCN5 belongs to the family of voltage-gated chloride channel genes (CLCN1-CLCN7, CLCKa and CLCKb) that have about 12 transmembrane domains. These
Dent's_disease
Delayed relaxation of muscles following contraction
Thomsen's disease exist. Both diseases are caused by mutations in the gene CLCN1 encoding the ClC-1 ion channel. More than 130 different mutations exist
Myotonia
underlie a range of human genetic diseases - for example, myotonia congenita (CLCN1), Bartter syndrome (ClC‑K/barttin), osteopetrosis (ClC‑7/Ostm1) - thereby
Thomas_J._Jentsch
False appearance of an athletic body due to disease or injury
(delayed muscle relaxation) Myotonia congenita (Chloride channelopathy, CLCN1 gene) Calf muscle /general Calf muscle hypertrophy. Potassium-aggravated
Pseudoathletic_appearance
Protein-coding gene in humans
family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics
CLCN4
Index of articles on biophysics
CHRNB1 CHRNB2 CHRNB3 CHRNB4 CHRND CHRNE CHRNG CLCA1 CLCA2 CLCA3 CLCA4 CLCC1 CLCN1 CLCN2 CLCN3 CLCN4 CLCN5 CLCN6 CLCN7 CLCNKA CLCNKB CLIC1 CLIC2 CLIC3 CLIC4
Index_of_biophysics_articles
Protein domain
these have been identified as the cause of genetic diseases. Mutations in CLCN1 lead to myotonia (OMIM: 160800), mutations in CLCN2 can lead to idiopathic
CBS_domain
Q14CN2 3097 CLCC1 HGNC:29675; Q96S66 3098 CLCF1 HGNC:17412; Q9UBD9 3099 CLCN1 HGNC:2019; P35523 3100 CLCN2 HGNC:2020; P51788 3101 CLCN3 HGNC:2021; P51790
List of human protein-coding genes 2
List_of_human_protein-coding_genes_2
Protein-coding gene in humans
Biol. Chem. 281 (40): 29448–54. doi:10.1074/jbc.M605919200. PMID 16873362. CLCN1+protein,+human at the U.S. National Library of Medicine Medical Subject
CLCA2
Mammalian protein found in humans
including 11 coding exons (from 2 to 12). The CLCN5 gene has 8 paralogues (CLCN1, CLCN2, CLCN3, CLCN4, CLCN6, CLCN7, CLCNKA, CLCNKB) and 201 orthologues
CLCN5
Category of drugs
2013). "Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy". Neurology. 80 (12): 1078–1085. doi:10.1212/WNL.0b013e31828868e7
Chloride_channel_opener
CLCN1
CLCN1
CLCN1
CLCN1
Boy/Male
Hindu, Indian, Malayalam, Marathi
Traveller
Boy/Male
Hindu, Indian
Ever Smiling
Girl/Female
English American Danish
Abbreviation of Katherine. Pure.
Girl/Female
Tamil
Ravipriya | ரவீபà¯à®°à®¿à®¯à®¾
Red lotus flower
Boy/Male
British, English
Right-hand Son; Similar to Benedict
Boy/Male
Muslim
Comfort, Relief, Ease, Repose
Surname or Lastname
English (Yorkshire)
English (Yorkshire) : variant of Hinchcliffe.
Girl/Female
Tamil
Girl/Female
Hindu
Well wisher
Surname or Lastname
English
English : variant of Major 1.French : from the same personal name as 1, or from a short form of the personal name Amauger, from a Germanic personal name composed of the elements amal ‘strength’, ‘vigor’ + gÄr, gÄ“r ‘spear’.South German : dialect variant of Maunker, nickname for a morose person.
CLCN1
CLCN1
CLCN1
CLCN1
CLCN1