Cell Biology Antibodies 7
Anti-ALG9 Antibody (CAB17213)
- SKU:
- CAB17213
- Product Type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Cell Biology
Description
Antibody Name: | Anti-ALG9 Antibody |
Antibody SKU: | CAB17213 |
Antibody Size: | 20uL, 50uL, 100uL |
Application: | WB |
Reactivity: | Human |
Host Species: | Rabbit |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 439-618 of human ALG9 (NP_079016.2). |
Application: | WB |
Recommended Dilution: | WB 1:500 - 1:2000 |
Reactivity: | Human |
Positive Samples: |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 439-618 of human ALG9 (NP_079016.2). |
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: | LFRG YHGP LDLY PEFY RIAT DPTI HTVP EGRP VNVC VGKE WYRF PSSF LLPD NWQL QFIP SEFR GQLP KPFA EGPL ATRI VPTD MNDQ NLEE PSRY IDIS KCHY LVDL DTMR ETPR EPKY SSNK EEWI SLAY RPFL DASR SSKL LRAF YVPF LSDQ YTVY VNYT ILKP RKAK QIRK KSGG |
Gene ID: | 79796 |
Uniprot: | Q9H6U8 |
Cellular Location: | |
Calculated MW: | |
Observed MW: | Refer to figures |
Synonyms: | ALG9, CDG1L, DIBD1, GIKANIS, LOH11CR1J, alpha-1 |
Background: | This gene encodes an alpha-1, 2-mannosyltransferase enzyme that functions in lipid-linked oligosaccharide assembly. Mutations in this gene result in congenital disorder of glycosylation type Il. Multiple transcript variants encoding different isoforms have been found for this gene. |
UniProt Protein Function: | ALG9: Catalyzes the transfer of mannose from Dol-P-Man to lipid-linked oligosaccharides. A chromosomal aberration involving ALG9 is found in a family with bipolar affective disorder. Translocation t(9;11)(p24;q23). However, common variations in ALG9 do not play a major role in predisposition to bipolar affective disorder. Defects in ALG9 are the cause of congenital disorder of glycosylation type 1L (CDG1L). CDGs are a family of severe inherited diseases caused by a defect in protein N- glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Belongs to the glycosyltransferase 22 family. 4 isoforms of the human protein are produced by alternative splicing. |
UniProt Protein Details: | Protein type:EC 2.4.1.261; Transferase; Membrane protein, multi-pass; EC 2.4.1.259; Glycan Metabolism - N-glycan biosynthesis; Membrane protein, integral Chromosomal Location of Human Ortholog: 11q23 Cellular Component: endoplasmic reticulum membrane; membrane; endoplasmic reticulum; integral to membrane Molecular Function:mannosyltransferase activity Biological Process: cellular protein metabolic process; dolichol-linked oligosaccharide biosynthetic process; protein amino acid N-linked glycosylation via asparagine; post-translational protein modification Disease: Congenital Disorder Of Glycosylation, Type Il |
NCBI Summary: | This gene encodes an alpha-1,2-mannosyltransferase enzyme that functions in lipid-linked oligosaccharide assembly. Mutations in this gene result in congenital disorder of glycosylation type Il. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] |
UniProt Code: | Q9H6U8 |
NCBI GenInfo Identifier: | 118026933 |
NCBI Gene ID: | 79796 |
NCBI Accession: | NP_001071158.1 |
UniProt Secondary Accession: | Q9H6U8,Q6ZMD5, Q7Z4R4, Q96GS7, Q96PB9, Q9H068, |
UniProt Related Accession: | Q9H6U8 |
Molecular Weight: | 51,743 Da |
NCBI Full Name: | alpha-1,2-mannosyltransferase ALG9 isoform b |
NCBI Synonym Full Names: | ALG9, alpha-1,2-mannosyltransferase |
NCBI Official Symbol: | ALG9 |
NCBI Official Synonym Symbols: | CDG1L; DIBD1; LOH11CR1J |
NCBI Protein Information: | alpha-1,2-mannosyltransferase ALG9; disrupted in bipolar disorder protein 1; disrupted in bipolar affective disorder 1; asparagine-linked glycosylation protein 9 homolog; dol-P-Man dependent alpha-1,2-mannosyltransferase; dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase; dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase; loss of heterozygosity, 11, chromosomal region 1 gene J product; asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog; dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase; dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase; asparagine-linked glycosylation 9 homolog (yeast, alpha- 1,2-mannosyltransferase); asparagine-linked glycosylation 9 homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase) |
UniProt Protein Name: | Alpha-1,2-mannosyltransferase ALG9 |
UniProt Synonym Protein Names: | Asparagine-linked glycosylation protein 9 homolog; Disrupted in bipolar disorder protein 1; Dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase; Dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase |
Protein Family: | Alpha-1,2-mannosyltransferase |
UniProt Gene Name: | ALG9 |
UniProt Entry Name: | ALG9_HUMAN |
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