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CDKL5 is a gene that provides instructions for making a protein called cyclin-dependent kinase-like 5 also known as serine/threonine kinase 9 (STK9) that is essential for normal brain development. Mutations in the gene can cause deficiencies in the protein.
The mother's mutant CDKL5 allele was skewed in its X-inactivation, being expressed in only 20% of circulating lymphoblasts. However, her daughter, who was diagnosed with CDD, expressed the mutant in 50% of her circulating lymphoblasts. [5] Females: a mutation in one of the two copies of the CDKL5 gene in each cell causes the disorder.
12568 Ensembl ENSG00000164885 ENSMUSG00000028969 UniProt Q00535 P49615 RefSeq (mRNA) NM_001164410 NM_004935 NM_007668 RefSeq (protein) NP_001157882 NP_004926 NP_031694 Location (UCSC) Chr 7: 151.05 – 151.06 Mb Chr 5: 24.62 – 24.63 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Cyclin-dependent kinase 5 is a protein, and more specifically an enzyme, that is encoded by the Cdk5 ...
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
Sir Paul M. Nurse (b. 1949): In the mid-1970s, Nurse's studies uncovered the cdc2 gene in fission yeast, which is crucial for the progression of the cell cycle from G1 to S phase and from G2 to M phase. In 1987, he identified the corresponding gene in humans, CDK1, highlighting the conservation of cell cycle control mechanisms across species.
Infantile epileptic spasms syndrome (IESS) previously known as West syndrome needs the inclusion of epileptic spasms for diagnosis. [1] Epileptic spasms (also known as infantile spasms) may also occur outside of a syndrome (that is, in the absence of hypsarrhythmia and cognitive regression) - notably in association with severe brain disorders (e.g. lissencephaly).
20304 Ensembl ENSG00000271503 ENSG00000274233 ENSMUSG00000035042 UniProt P13501 P30882 RefSeq (mRNA) NM_002985 NM_001278736 NM_013653 RefSeq (protein) NP_001265665 NP_002976 NP_038681 Location (UCSC) Chr 17: 35.87 – 35.88 Mb Chr 11: 83.42 – 83.42 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Chemokine (C-C motif) ligand 5 (also CCL5) is a protein which in humans is encoded by ...
The c-Jun N-terminal kinases consist of ten isoforms derived from three genes: JNK1 (four isoforms), JNK2 (four isoforms) and JNK3 (two isoforms). [2] Each gene is expressed as either 46 kDa or 55 kDa protein kinases, depending upon how the 3' coding region of the corresponding mRNA is processed.
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