![]() This results in a shorter isoform (2) with a distinct N-terminus compared to isoform 1. Status: REVIEWED Description Transcript Variant: This variant (2) has a different 5' UTR, uses an alternate splice site in the 3' coding region, and initiates translation from a different start codon compared to variant 1. Location: 106 → 513 Voltage_CLC Voltage gated chloride channel These ion channels are proteins with a seemingly simple task of allowing the passive flow of. Location: 555 → 676 CBS_pair_EriC_assoc_euk_bac This cd contains two tandem repeats of the cystathionine beta-synthase (CBS pair) domains in the EriC CIC-type chloride channels in eukaryotes and bacteria. ![]() ClC-1 is expressed in skeletal muscle and its mutation leads to both recessively and dominantly-inherited forms of muscle stiffness or myotonia. This CD includes isoforms ClC-0, ClC-1, ClC-2 and ClC_K. Location: 49 → 534 ClC_1_like ClC-1-like chloride channel proteins. ![]() Status: REVIEWED Description Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). See identical proteins and their annotated locations for NP_000076.2 NM_000085.5 → NP_000076.2 chloride channel protein ClC-Kb isoform 1 NG_013079.2 RefSeqGene Range 5002.18528 Download GenBank, FASTA, Sequence Viewer (Graphics) This section to the one reported in Genomic regions, Identify version mismatches by comparing the version of the RefSeq in These reference sequences are curated independently of the genomeĪnnotation cycle, so their versions may not match the RefSeq versions in the current These reference sequences exist independently of genome builds. Expression Biased expression in kidney (RPKM 65.3), salivary gland (RPKM 9.9) and 1 other tissue See more Orthologs all NEW Try the new Gene table Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Mutations in this gene are associated with autosomal recessive Bartter syndrome type 3 (BS3). This gene is expressed predominantly in the kidney and may be important for renal salt reabsorption. Chloride channels have several functions, including the regulation of cell volume, membrane potential stabilization, signal transduction and transepithelial transport. Full Name chloride voltage-gated channel Kb provided by HGNC Primary source HGNC:HGNC:2027 See related Ensembl:ENSG00000184908 MIM:602023 AllianceGenome:HGNC:2027 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota Metazoa Chordata Craniata Vertebrata Euteleostomi Mammalia Eutheria Euarchontoglires Primates Haplorrhini Catarrhini Hominidae Homo Also known as CLCKB ClC-K2 ClC-Kb Summary The protein encoded by this gene is a member of the family of voltage-gated chloride channels.
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