Epigenetics & Nuclear Signaling Antibodies 1
Anti-RNASEH2C Antibody (CAB13884)
- SKU:
- CAB13884
- Product Type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Epigenetics and Nuclear Signaling
Description
Antibody Name: | Anti-RNASEH2C Antibody |
Antibody SKU: | CAB13884 |
Antibody Size: | 20uL, 50uL, 100uL |
Application: | WB |
Reactivity: | Human |
Host Species: | Rabbit |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-164 of human RNASEH2C (NP_115569.2). |
Application: | WB |
Recommended Dilution: | WB 1:500 - 1:2000 |
Reactivity: | Human |
Positive Samples: | 293T, HeLa |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-164 of human RNASEH2C (NP_115569.2). |
Purification Method: | Affinity purification |
Storage Buffer: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
Isotype: | IgG |
Sequence: | MESG DEAA IERH RVHL RSAT LRDA VPAT LHLL PCEV AVDG PAPV GRFF TPAI RQGP EGLE VSFR GRCL RGEE VAVP PGLV GYVM VTEE KKVS MGKP DPLR DSGT DDQE EEPL ERDF DRFI GATA NFSR FTLW GLET IPGP DAKV RGAL TWPS LAAA IHAQ VPED |
Gene ID: | 84153 |
Uniprot: | Q8TDP1 |
Cellular Location: | Nucleus |
Calculated MW: | 17kDa |
Observed MW: | 20kDa |
Synonyms: | RNASEH2C, AGS3, AYP1 |
Background: | This gene encodes a ribonuclease H subunit that can cleave ribonucleotides from RNA:DNA duplexes. Mutations in this gene cause Aicardi-Goutieres syndrome-3, a disease that causes severe neurologic dysfunction. A pseudogene for this gene has been identified on chromosome Y, near the sex determining region Y (SRY) gene. |
UniProt Protein Function: | RNASEH2C: Non catalytic subunit of RNase H2, an endonuclease that specifically degrades the RNA of RNA:DNA hybrids. Participates in DNA replication, possibly by mediating the removal of lagging- strand Okazaki fragment RNA primers during DNA replication. Mediates the excision of single ribonucleotides from DNA:RNA duplexes. Defects in RNASEH2C are the cause of Aicardi-Goutieres syndrome type 3 (AGS3). A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. Belongs to the RNase H2 subunit C family. 2 isoforms of the human protein are produced by alternative splicing. |
UniProt Protein Details: | Protein type:DNA replication Chromosomal Location of Human Ortholog: 11q13.1 Molecular Function:ribonuclease H activity Biological Process: RNA catabolic process Disease: Aicardi-goutieres Syndrome 3 |
NCBI Summary: | This gene encodes a ribonuclease H subunit that can cleave ribonucleotides from RNA:DNA duplexes. Mutations in this gene cause Aicardi-Goutieres syndrome-3, a disease that causes severe neurologic dysfunction. A pseudogene for this gene has been identified on chromosome Y, near the sex determining region Y (SRY) gene. [provided by RefSeq, Jul 2008] |
UniProt Code: | Q8TDP1 |
NCBI GenInfo Identifier: | 74730607 |
NCBI Gene ID: | 84153 |
NCBI Accession: | Q8TDP1.1 |
UniProt Secondary Accession: | Q8TDP1,Q9H7F5, |
UniProt Related Accession: | Q8TDP1 |
Molecular Weight: | 17,712 Da |
NCBI Full Name: | Ribonuclease H2 subunit C |
NCBI Synonym Full Names: | ribonuclease H2 subunit C |
NCBI Official Symbol: | RNASEH2C |
NCBI Official Synonym Symbols: | AGS3; AYP1 |
NCBI Protein Information: | ribonuclease H2 subunit C |
UniProt Protein Name: | Ribonuclease H2 subunit C |
UniProt Synonym Protein Names: | Aicardi-Goutieres syndrome 3 protein; AGS3; RNase H1 small subunit; Ribonuclease HI subunit C |
Protein Family: | Ribonuclease |
UniProt Gene Name: | RNASEH2C |
UniProt Entry Name: | RNH2C_HUMAN |
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