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GATM rabbit pAb

CAT: 0855-ES16229-01Size: 50 µLDry Ice: NoHazardous: No
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CAT#:0855-ES16229-01Size:50 µL
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Background
This gene encodes a mitochondrial enzyme that belongs to the amidinotransferase family. This enzyme is involved in creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from L-arginine to glycine, resulting in guanidinoacetic acid, the immediate precursor of creatine. Mutations in this gene cause arginine:glycine amidinotransferase deficiency, an inborn error of creatine synthesis characterized by mental retardation, language impairment, and behavioral disorders. [provided by RefSeq, Jul 2008]
Description
This gene encodes a mitochondrial enzyme that belongs to the amidinotransferase family. This enzyme is involved in creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from L-arginine to glycine, resulting in guanidinoacetic acid, the immediate precursor of creatine. Mutations in this gene cause arginine: glycine amidinotransferase deficiency, an inborn error of creatine synthesis characterized by mental retardation, language impairment, and behavioral disorders. [provided by RefSeq, Jul 2008],
UniProt
P50440
Swiss Prot
P50440
Reactivity
Human; Mouse; Rat
Immunogen
Synthesized peptide derived from human GATM AA range: 223-273
Target
GATM
Clonality
Polyclonal
Source
Rabbit
Applications
WB
Concentration
1 mg/ml
Dilution
WB 1:500-2000
Buffer
-20°C/1 year
Storage Conditions
-20°C/1 year
Fragment
IgG
Subcellular Location
[Isoform 1]: Mitochondrion inner membrane; Peripheral membrane protein; Intermembrane side. Probably attached to the outer side of the inner membrane.; [Isoform 2]: Cytoplasm.
Gene ID (Human)
2628

UniProtKB · P50440

Glycine amidinotransferase, mitochondrial

GATM_HUMAN · Homo sapiens

View on UniProt ↗
Primary accession
P50440
Review status
UniProtKB reviewed (Swiss-Prot)
Gene
GATM
Protein existence
1: Evidence at protein level
Organism
Homo sapiens (Human)
Taxonomy ID
9606
Alternative names
—
EC number
2.1.4.1
Processing
Precursor
Secondary accessions
B4DH99, B4DPI3, Q53EQ4
Protein keywords

Technical term

3D-structureProteomics identificationReference proteome

PTM

AcetylationPhosphoprotein

Coding sequence diversity

Alternative splicing

Cellular component

CytoplasmMembraneMitochondrionMitochondrion inner membrane

Disease

Disease variant

Molecular function

Transferase

Domain

Transit peptide

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