| ELAC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | ELAC2 , COXPD17, ELC2, HPC2, elaC ribonuclease Z 2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 605367 MGI: 1890496 HomoloGene: 6403 GeneCards: ELAC2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Zinc phosphodiesterase ELAC protein 2 is an enzyme that in humans is encoded by the ELAC2 gene. [5] [6] [7] on chromosome 17. It is an endonuclease thought to be involved in mitochondrial tRNA maturation,
The ELAC2 gene encodes a protein that is 92 kDa in size and is localized to the mitochondrion [8] and the nucleus. The ELAC2 protein is a zinc phosphodiesterase, which is known to show tRNA 3'-processing endonuclease activity inside the mitochondria. Mitochondria contain their own pool of tRNAs that are involved in the protein translation of 13 subunits of the respiratory chain that are encoded by the mitochondrial genome. ELAC2 functions in the maturation of tRNA by removing a 3'-trailer (extra 3' nucleotides) from tRNA precursors, generating 3' termini of tRNAs.
The reaction leaves a 3'-hydroxy group is left at the tRNA end, and a 5'-phosphoryl group at the cleaved, trailing end. The reaction requires zinc ions as co-factors.
Variants of the ELAC2 gene are associated with prostate cancer, hereditary 2 (HPC2), a condition associated with familial cancer of the prostate. [9] [10] Multiple mutations including truncation and missense mutations are known to cause the disease from multiple families based on linkage analysis and positional cloning. [10]
In addition, mutations in ELAC2 are known to cause combined oxidative phosphorylation deficiency 17 (COXPD17), a rare autosomal recessive disorder of mitochondrial functions characterized by severe hypertrophic cardiomyopathy. [11]
Ribonuclease L or RNase L, known sometimes as ribonuclease 4 or 2'-5' oligoadenylate synthetase-dependent ribonuclease, is an interferon (IFN)-induced ribonuclease which, upon activation, destroys all RNA within the cell. RNase L is an enzyme that in humans is encoded by the RNASEL gene.
Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial (SDHB) also known as iron-sulfur subunit of complex II (Ip) is a protein that in humans is encoded by the SDHB gene.
Galactosylceramidase, EC 3.2.1.46, is an enzyme that removes galactose from ceramide derivatives (galactosylceramides) by catalysing the hydrolysis of galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride.
Trifunctional enzyme subunit beta, mitochondrial (TP-beta) also known as 3-ketoacyl-CoA thiolase, acetyl-CoA acyltransferase, or beta-ketothiolase is an enzyme that in humans is encoded by the HADHB gene.
Acetyl-CoA acetyltransferase, mitochondrial, also known as acetoacetyl-CoA thiolase, is an enzyme that in humans is encoded by the ACAT1 gene.
The human gene SPAST codes for the microtubule-severing protein of the same name, commonly known as spastin.
Cell division cycle 73, Paf1/RNA polymerase II complex component, homolog , also known as CDC73 and parafibromin, is a protein which in humans is encoded by the CDC73 gene.
Argininosuccinate synthetase is an enzyme that in humans is encoded by the ASS1 gene.
PRP31 pre-mRNA processing factor 31 homolog , also known as PRPF31, is a protein which in humans is encoded by the PRPF31 gene.
Macrophage scavenger receptor 1, also known as MSR1, is a protein which in humans is encoded by the MSR1 gene. MSR1 has also been designated CD204.
Progressive ankylosis protein homolog is a protein that in humans is encoded by the ANKH gene.
Gap junction beta-3 protein (GJB3), also known as connexin 31 (Cx31) — is a protein that in humans is encoded by the GJB3 gene.
Probable leucyl-tRNA synthetase, mitochondrial is an enzyme that in humans is encoded by the LARS2 gene.
Age-related maculopathy susceptibility protein 2, is a mitochondrial protein that in humans is encoded by the ARMS2 gene.
Elongation factor G 1, mitochondrial is a protein that in humans is encoded by the GFM1 gene. It is an EF-G homolog.
Mitochondrial tRNA-specific 2-thiouridylase 1 is an enzyme that in humans is encoded by the TRMU gene.
KIAA0196 is a human gene. The product is a protein that is a component of the WASH complex, which regulates actin assembly on intracellular vesicles. Mutations in KIAA0196 are implicated in some forms of hereditary spastic paraplegia.
39S ribosomal protein L32, mitochondrial is a protein that in humans is encoded by the MRPL32 gene.
Elongation factor Ts, mitochondrial is a protein that in humans is encoded by the TSFM gene. It is an EF-Ts homolog.
Zinc phosphodiesterase ELAC protein 1 is an enzyme that in humans is encoded by the ELAC1 gene.
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