TMLHE Antibody

Datasheet

Code	CSB-PA023908LA01HU
Size	US$166
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Image	Western blot All lanes: TMLHE antibody at 2µg/ml + MCF-7 whole cell lysate Secondary Goat polyclonal to rabbit IgG at 1/10000 dilution Predicted band size: 50, 47, 39, 45, 43, 42, 51 kDa Observed band size: 50 kDa Immunohistochemistry of paraffin-embedded human kidney tissue using CSB-PA023908LA01HU at dilution of 1:100 Immunohistochemistry of paraffin-embedded human heart tissue using CSB-PA023908LA01HU at dilution of 1:100
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Product Details
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Target Background

Product Details

Full Product Name

Rabbit anti-Homo sapiens (Human) TMLHE Polyclonal antibody

Uniprot No.

Q9NVH6

Target Names

TMLHE

Alternative Names

AUTSX6 antibody; BBOX2 antibody; Butyrobetaine (gamma) 2 oxoglutarate dioxygenase (gamma butyrobetaine hydroxylase) 2 antibody; Epsilon-trimethyllysine 2-oxoglutarate dioxygenase antibody; Epsilon-trimethyllysine hydroxylase antibody; FLJ10727 antibody; TML dioxygenase antibody; TML hydroxylase antibody; TML-alpha-ketoglutarate dioxygenase antibody; TMLD antibody; TMLH antibody; TMLH_HUMAN antibody; TMLHE antibody; TMLHED antibody; Trimethyllysine dioxygenase, mitochondrial antibody; Trimethyllysine hydroxylase epsilon antibody; XAP130 antibody

Raised in

Rabbit

Species Reactivity

Human

Immunogen

Recombinant Human Trimethyllysine dioxygenase, mitochondrial protein (16-376AA)

Immunogen Species

Homo sapiens (Human)

Conjugate

Non-conjugated

The TMLHE Antibody (Product code: CSB-PA023908LA01HU) is Non-conjugated. For TMLHE Antibody with conjugates, please check the following table.

Conjugate	Product Code	Product Name	Application
HRP	CSB-PA023908LB01HU	TMLHE Antibody, HRP conjugated	ELISA
FITC	CSB-PA023908LC01HU	TMLHE Antibody, FITC conjugated
Biotin	CSB-PA023908LD01HU	TMLHE Antibody, Biotin conjugated	ELISA

Clonality

Polyclonal

Isotype

IgG

Purification Method

>95%, Protein G purified

Concentration

It differs from different batches. Please contact us to confirm it.

Buffer

Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, PH 7.4

Form

Liquid

Tested Applications

ELISA, WB, IHC

Recommended Dilution

Application	Recommended Dilution
WB	1:500-1:5000
IHC	1:20-1:200

Protocols

ELISA Protocol
Western Blotting(WB) Protocol
Immunohistochemistry (IHC) Protocol

Troubleshooting and FAQs

Antibody FAQs

Storage

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.

Lead Time

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

Usage

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

Customer Reviews and Q&A

■ Customer Reviews

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Target Background

Function

Converts trimethyllysine (TML) into hydroxytrimethyllysine (HTML).

Gene References into Functions

Case Report: complex recombination with deletion in the F8 and duplication in the TMLHE mediated by int22h copies during early embryogenesis in proband's mother. PMID: 28492696
Study found 3 mutations in TMLHE to be associated with autism spectrum disorder, c.229C>T/p.Arg77X, c.730G>C/p.Asp244His, and c.1107G>T/p.Glu369Asp. PMID: 23092983
TMLHE deficiency is common in control males and was not significantly increased in frequency in probands from simplex autism families, however, it was 2.82-fold more frequent in probands from male-male multiplex autism families. PMID: 22566635
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. PMID: 21865298
C-terminal region of trimethyllysine hydroxylase, epsilon contains the main determinants for its enzymatic activity including a key H389 residue PMID: 15754339
By 5' and 3' RACE, we identified and mapped two alternative 5' TMLH first exons and seven alternative 3'-splice variants. PMID: 17408883

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Involvement in disease

Autism, X-linked 6 (AUTSX6)

Subcellular Location

Mitochondrion matrix.

Protein Families

Gamma-BBH/TMLD family

Tissue Specificity

All isoforms, but isoform 8, are widely expressed in adult and fetal tissues. Isoform 8 is restricted to heart and skeletal muscle.

Database Links

HGNC: 18308

OMIM: 300777

KEGG: hsa:55217

STRING: 9606.ENSP00000335261

UniGene: Hs.133321

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Service

Phage Display Service

Antibody Service

Protein Service

Gene Synthesis Service

Oligo Synthesis Service

Antibody FAQs What Is an Antibody? How to Choose an Antibody for Scientific Research? The difference between primary antibody and secondary antibod The Meaning of Irregular Antibody Screening Tag Antibodies, Your Good Partner in Protein Research How to Choose the Loading Control Antibodies?

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301-363-4651 (Available 9 a.m. to 5 p.m. CST from Monday to Friday)

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Address

7505 Fannin St., Ste 610, Room 7 (CUBIO Innovation Center), Houston, TX 77054, USA

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