Product Details

Full Product Name

Rabbit anti-Homo sapiens (Human) TMCO1 Polyclonal antibody

Uniprot No.

Q9UM00

Target Names

TMCO1

Alternative Names

TMCO1; TMCC4; PNAS-10; PNAS-136; UNQ151/PRO177; Calcium load-activated calcium channel; CLAC channel; Transmembrane and coiled-coil domain-containing protein 1; Transmembrane and coiled-coil domains protein 4; Xenogeneic cross-immune protein PCIA3

Raised in

Rabbit

Species Reactivity

Human

Immunogen

Recombinant Human Calcium load-activated calcium channel protein (43-79AA)

Immunogen Species

Homo sapiens (Human)

Conjugate

Biotin

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

Protocols

ELISA 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.

Target Background

Function

Calcium-selective channel required to prevent calcium stores from overfilling, thereby playing a key role in calcium homeostasis. In response to endoplasmic reticulum (ER) overloading, assembles into a homotetramer, forming a functional calcium-selective channel, regulating the calcium content in endoplasmic reticulum store. Component of a ribosome-associated ER translocon complex involved in multi-pass membrane protein transport into the ER membrane and biogenesis. Together with SEC61 and TMEM147, forms the lipid-filled cavity at the center of the translocon where TMEM147 may insert hydrophobic segments of mutli-pass membrane proteins from the lumen into de central membrane cavity in a process gated by SEC61, and TMCO1 may insert hydrophobic segments of nascent chains from the cytosol into the cavity.

Gene References into Functions

TMCO1 recruited the PH domain and leucine-rich repeat protein phosphatase 2 (PHLPP2) to dephosphorylate pAKT1(serine 473) (S473). Mutagenesis at S60 of the TMCO1 protein released TMCO1-induced cell-cycle arrest and restored the AKT pathway in BFTC905 cells. Stable TMCO1 (wild-type) overexpression suppressed, whereas T33A and S60A mutants recovered, tumor size in xenograft mice. PMID: 28972042
TMCO1 genotype was found to increase the risk of glaucoma developing among non-Hispanic whites, the largest racial subgroup in the OHTS cohort. PMID: 27707548
The significant association of three common variants in TMCO1, ATOH7, and CAV1 with primary open angle, primary angle closure, and pseudoexfoliation glaucoma was found in Pakistani cohorts. PMID: 25489222
TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia. PMID: 24194475
We identified two nominally significant SNPs (P < 0.05), including rs7518099 and rs2814471 in TMCO1, in primary open angle glaucoma. PMID: 23963167
This study shows a relationship between genetic variation in and around TMCO1 with age at diagnosis of POAG and provides clues to the potential cellular function/s of this gene. PMID: 22714896
Intraocular pressure (IOP)was significantly associated with rs11656696, located in GAS7 at 17p13.1 and with rs7555523, located in TMCO1 at 1q24.1.These data suggest that we have identified two clinically relevant genes involved in IOP regulation. PMID: 22570627
We report a genome-wide association study for open-angle glaucoma (OAG) blindness at tnco1 and cdkn2b loci. PMID: 21532571
This report shows a TMCO1 sequence variant being associated with a genetic disorder in humans. PMID: 20018682

Hide All

Involvement in disease

Craniofacial dysmorphism, skeletal anomalies and mental retardation syndrome (CFSMR); Glaucoma, primary open angle (POAG)

Subcellular Location

Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein.

Protein Families

TMCO1 family

Tissue Specificity

Widely expressed in adult and fetal tissues, with higher levels in thymus, prostate, testis and small intestine and lower levels in brain, placenta, lung and kidney. Present in most tissues in the eye, including the trabecular meshwork and retina (at prot

Database Links

HGNC: 18188

OMIM: 137760

KEGG: hsa:54499

STRING: 9606.ENSP00000375975

UniGene: Hs.31498

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Code	CSB-PA891784LD01HU
Size	US$166
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TMCO1 Antibody, Biotin conjugated

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Target Background