Anti-TMLHE Antibody (CAB7312)
- SKU:
- CAB7312
- Product type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Metabolism
Frequently bought together:
Description
| Antibody Name: | Anti-TMLHE Antibody |
| Antibody SKU: | CAB7312 |
| Antibody Size: | 20uL, 50uL, 100uL |
| Application: | IF |
| Reactivity: | Human |
| Host Species: | Rabbit |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 167-376 of human TMLHE (NP_001171726.1). |
| Application: | IF |
| Recommended Dilution: | IF 1:50 - 1:100 |
| Reactivity: | Human |
| Positive Samples: |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 167-376 of human TMLHE (NP_001171726.1). |
| 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: | CQSF LETN EGLK KFLQ NFLL YGIA FVEN VPPT QEHT EKLA ERIS LIRE TIYG RMWY FTSD FSRG DTAY TKLA LDRH TDTT YFQE PCGI QVFH CLKH EGTG GRTL LVDG FYAA EQVL QKAP EEFE LLSK VPLK HEYI EDVG ECHN HMIG IGPV LNIY PWNK ELYL IRLF KEKQ NTVN RQWN SSLQ CDIP ERIL TYRH FVSG TSIE HRGS LI |
| Gene ID: | 55217 |
| Uniprot: | Q9NVH6 |
| Cellular Location: | Mitochondrion matrix |
| Calculated MW: | 38kDa/41kDa/42kDa/44kDa/46kDa/49kDa/50kDa |
| Observed MW: |
| Synonyms: | TMLHE, AUTSX6, BBOX2, TMLD, TMLH, TMLHED, XAP130, epsilon |
| Background: | This gene encodes the protein trimethyllysine dioxygenase which is the first enzyme in the carnitine biosynthesis pathway. Carnitine play an essential role in the transport of activated fatty acids across the inner mitochondrial membrane. The encoded protein converts trimethyllysine into hydroxytrimethyllysine. A pseudogene of this gene is found on chromosome X. Alternate splicing results in multiple transcript variants. |
| UniProt Protein Function: | TMLHE: Converts trimethyllysine (TML) into hydroxytrimethyllysine (HTML). Defects in TMLHE are the cause of epsilon-trimethyllysine hydroxylase deficiency (TMLHED). An inborn error of carnitine biosynthesis associated with an increased risk for developing autistic behavior. Autism is a complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation. Belongs to the gamma-BBH/TMLD family. 8 isoforms of the human protein are produced by alternative promoter. |
| UniProt Protein Details: | Protein type:Amino Acid Metabolism - lysine degradation; Mitochondrial; Oxidoreductase; EC 1.14.11.8 Chromosomal Location of Human Ortholog: Xq28 Cellular Component: mitochondrion; mitochondrial matrix Molecular Function:oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen; trimethyllysine dioxygenase activity; L-ascorbic acid binding; iron ion binding Biological Process: negative regulation of oxidoreductase activity; carnitine biosynthetic process Disease: Epsilon-trimethyllysine Hydroxylase Deficiency |
| NCBI Summary: | This gene encodes the protein trimethyllysine dioxygenase which is the first enzyme in the carnitine biosynthesis pathway. Carnitine play an essential role in the transport of activated fatty acids across the inner mitochondrial membrane. The encoded protein converts trimethyllysine into hydroxytrimethyllysine. A pseudogene of this gene is found on chromosome X. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010] |
| UniProt Code: | Q9NVH6 |
| NCBI GenInfo Identifier: | 21542295 |
| NCBI Gene ID: | 55217 |
| NCBI Accession: | Q9NVH6.1 |
| UniProt Secondary Accession: | Q9NVH6,Q5TZB5, Q6IA90, Q8TBT0, A8K6M9, B4E3R3, |
| UniProt Related Accession: | Q9NVH6 |
| Molecular Weight: | 421 |
| NCBI Full Name: | Trimethyllysine dioxygenase, mitochondrial |
| NCBI Synonym Full Names: | trimethyllysine hydroxylase, epsilon |
| NCBI Official Symbol: | TMLHE |
| NCBI Official Synonym Symbols: | TMLD; TMLH; BBOX2; AUTSX6; TMLHED; XAP130 |
| NCBI Protein Information: | trimethyllysine dioxygenase, mitochondrial; TML hydroxylase; TML-alpha-ketoglutarate dioxygenase; epsilon-trimethyllysine hydroxylase; epsilon-trimethyllysine 2-oxoglutarate dioxygenase; butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2 |
| UniProt Protein Name: | Trimethyllysine dioxygenase, mitochondrial |
| UniProt Synonym Protein Names: | Epsilon-trimethyllysine 2-oxoglutarate dioxygenase; Epsilon-trimethyllysine hydroxylase; TML hydroxylase; TML-alpha-ketoglutarate dioxygenase; TML dioxygenase; TMLD |
| UniProt Gene Name: | TMLHE |
| UniProt Entry Name: | TMLH_HUMAN |
 | Immunofluorescence analysis of MCF-7 cells using TMLHE antibody (CAB7312). Blue: DAPI for nuclear staining. |
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