CLPP

CLPP
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1TG6
Dynodwyr
Cyfenwau	CLPP, PRLTS3, DFNB81, caseinolytic mitochondrial matrix peptidase proteolytic subunit
Dynodwyr allanol	OMIM: 601119 HomoloGene: 4385 GeneCards: CLPP
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • GO:0070122 peptidase activity • serine-type peptidase activity • serine-type endopeptidase activity • GO:0001948, GO:0016582 protein binding • hydrolase activity • identical protein binding • ATP-dependent peptidase activity • ATPase binding Cydrannau o'r gell • mitochondrial matrix • mitocondria • endopeptidase Clp complex Prosesau biolegol • proteolysis involved in cellular protein catabolic process • protein homooligomerization • proteolysis • protein quality control for misfolded or incompletely synthesized proteins Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	8192	n/a
Ensembl	ENSG00000125656	n/a
UniProt	Q16740	n/a
RefSeq (mRNA)	NM_006012	n/a
RefSeq (protein)	NP_006003	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn CLPP yw CLPP a elwir hefyd yn Caseinolytic mitochondrial matrix peptidase proteolytic subunit (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn blaen o gromosom dynol 19, band 19p13.3.

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn CLPP.

• DFNB81
• PRLTS3

Llyfryddiaeth

• "Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3. ". J Neurol Sci. 2015. PMID 25956234.
• "Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. ". Am J Hum Genet. 2013. PMID 23541340.
• "Autophagy compensates impaired energy metabolism in CLPXP-deficient Podospora anserina strains and extends healthspan. ". Aging Cell. 2017. PMID 28449241.
• "A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family. ". J Clin Res Pediatr Endocrinol. 2016. PMID 27087618.
• "Barrel-shaped ClpP Proteases Display Attenuated Cleavage Specificities.". ACS Chem Biol. 2016. PMID 26606371.