Signal Transduction Antibodies 3
Anti-ANKH Antibody (CAB9881)
- SKU:
- CAB9881
- Product Type:
- Antibody
- Applications:
- WB
- Applications:
- IHC
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Research Area:
- Signal Transduction
Description
Antibody Name: | Anti-ANKH Antibody |
Antibody SKU: | CAB9881 |
Antibody Size: | 20uL, 50uL, 100uL |
Application: | WB IHC |
Reactivity: | Human |
Host Species: | Rabbit |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 210-320 of human ANKH (NP_473368.1). |
Application: | WB IHC |
Recommended Dilution: | WB 1:500 - 1:2000 IHC 1:50 - 1:100 |
Reactivity: | Human |
Positive Samples: | SH-SY5Y, OVCAR3 |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 210-320 of human ANKH (NP_473368.1). |
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: | LGYY KNIH DIIP DRSG PELG GDAT IRKM LSFW WPLA LILA TQRI SRPI VNLF VSRD LGGS SAAT EAVA ILTA TYPV GHMP YGWL TEIR AVYP AFDK NNPS NKLV STSN TVT |
Gene ID: | 56172 |
Uniprot: | Q9HCJ1 |
Cellular Location: | Membrane, Multi-pass membrane protein |
Calculated MW: | 32kDa/54kDa |
Observed MW: | 54kDa |
Synonyms: | ANKH, ANK, CCAL2, CMDJ, CPPDD, HANK, MANK |
Background: | This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals. Mutations in this gene have been associated with autosomal dominant craniometaphyseal dysplasia. |
UniProt Protein Function: | ANKH: Regulates intra- and extracellular levels of inorganic pyrophosphate (PPi), probably functioning as PPi transporter. Defects in ANKH are the cause of chondrocalcinosis 2 (CCAL2). Chondrocalcinosis is a common cause of joint pain and arthritis caused by calcium deposition in articular cartilage and the presence of calcium hypophosphate crystals in synovial fluid, cartilage and periarticular soft tissue. CCAL2 inheritance is autosomal dominant. Defects in ANKH are the cause of craniometaphyseal dysplasia Jackson type (CMDJ). CMDJ is a rare autosomal dominant skeletal disorder characterized by abnormal bone formation and mineralization in membranous as well as endochondral bones. Progressive thickening of the bones can cause narrowing of cranial foramina and can lead to severe visual and neurological impairment, such as facial palsy and deafness. Belongs to the ANKH family. |
UniProt Protein Details: | Protein type:Membrane protein, multi-pass; Transporter; Membrane protein, integral Chromosomal Location of Human Ortholog: 5p15.1 Cellular Component: integral to membrane; integral to plasma membrane; outer membrane; plasma membrane Molecular Function:inorganic diphosphate transmembrane transporter activity; inorganic phosphate transmembrane transporter activity Biological Process: regulation of bone mineralization; transmembrane transport Disease: Chondrocalcinosis 2; Craniometaphyseal Dysplasia, Autosomal Dominant |
NCBI Summary: | This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals. Mutations in this gene have been associated with autosomal dominant craniometaphyseal dysplasia. [provided by RefSeq, Jul 2008] |
UniProt Code: | Q9HCJ1 |
NCBI GenInfo Identifier: | 17366849 |
NCBI Gene ID: | 56172 |
NCBI Accession: | Q9HCJ1.2 |
UniProt Secondary Accession: | Q9HCJ1,Q9NQW2, B2RCA7, B3KMG4, D3DTD4, |
UniProt Related Accession: | Q9HCJ1 |
Molecular Weight: | 32,259 Da |
NCBI Full Name: | Progressive ankylosis protein homolog |
NCBI Synonym Full Names: | ANKH inorganic pyrophosphate transport regulator |
NCBI Official Symbol: | ANKH |
NCBI Official Synonym Symbols: | ANK; CMDJ; HANK; MANK; CCAL2; CPPDD |
NCBI Protein Information: | progressive ankylosis protein homolog |
UniProt Protein Name: | Progressive ankylosis protein homolog |
Protein Family: | Progressive ankylosis protein |
UniProt Gene Name: | ANKH |
UniProt Entry Name: | ANKH_HUMAN |
View AllClose