RecName: Full=Cyanocobalamin reductase / alkylcobalamin dealkylase; Al - Protein

Run BLAST
Find regions of similarity between this sequence and other sequences using BLAST.
Identify Conserved Domains
View conserved domains detected in this protein sequence using CD-search.
Highlight Sequence Features
Opens the Highlight Feature Bar and highlights feature annotations from the FEATURES table of the record. The Highlight Feature Bar can be used to navigate to and highlight other features and provides links to display the highlighted region separately. Links in the FEATURES table will also highlight the corresponding region of the sequence. More...
Find in this Sequence
Finds sub-sequences or patterns in the sequence and highlights the matching regions. The tool works with standard single letter nucleotide or protein codes including ambiguities and can match Prosite patterns in protein sequences. More...

Clinical and electroencephalogram characteristics of methylmalonic acidemia with MMACHC and MUT gene mutations. [BMC Pediatr. 2024]
Clinical and electroencephalogram characteristics of methylmalonic acidemia with MMACHC and MUT gene mutations.
Yuan Y, Ma Y, Wu Q, Huo L, Liu CF, Liu X. BMC Pediatr. 2024 Feb 14; 24(1):119. Epub 2024 Feb 14.
[Analysis of clinical phenotypes and MMACHC gene variants in 65 children with Methylmalonic acidemia and homocysteinemia]. [Zhonghua Yi Xue Yi Chuan Xue Z...]
[Analysis of clinical phenotypes and MMACHC gene variants in 65 children with Methylmalonic acidemia and homocysteinemia].
Chen C, Zhang Y, Ge L, Liu L, Zhang X, Mei S, Luo S. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Sep 10; 40(9):1086-1092.
[Factors affecting phenotypes in the patients with MMACHC gene c.609G>A homozygous variant cblC type methylmalonic acidemia combined with homocysteinuria]. [Zhonghua Yi Xue Yi Chuan Xue Z...]
[Factors affecting phenotypes in the patients with MMACHC gene c.609G>A homozygous variant cblC type methylmalonic acidemia combined with homocysteinuria].
He R, Mo R, Zhang Y, Shen M, Kang L, Chen Z, Liu Y, Song J, Zhang H, Yao H, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Jun 10; 39(6):565-570.

RefSeq genomic sequence
See the genomic reference sequence for the MMACHC gene (NG_013378.2).
RefSeq protein isoforms
See 2 reference sequence protein isoforms for the MMACHC gene.

PubMed
PubMed articles cited by protein sequence record
Taxonomy
Taxonomy sequences associated with protein record
BioSystems
BioSystems
CDD Search Results
Display conserved domains within a protein
Conserved Domains (Concise)
Link to a concise list of conserved domains in a protein
Conserved Domains (Full)
Link to conserved domains within a protein
Domain Relatives
Display proteins with similar conserved domain architecture
Full text in PMC
Free full text articles in PMC
Gene
Link to related Genes
Identical Structures
3D structures for identical protein sequences
OMIM
OMIM records associated with protein sequence
Protein (RefSeq)
Protein gi (UniProtKB) to protein gi (refseq)
PubMed (Weighted)
Links to pubmed
Related Structures (List)
List of related structures
Related Structures (Summary)
Related structures

Q9Y4U1 [Domain Mapping of Disease Mut...]
Q9Y4U1
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

RecName: Full=Cyanocobalamin reductase / alkylcobalamin dealkylase; AltName: Ful...
RecName: Full=Cyanocobalamin reductase / alkylcobalamin dealkylase; AltName: Full=Alkylcobalamin:glutathione S-alkyltransferase; AltName: Full=CblC; AltName: Full=Cyanocobalamin reductase (cyanide-eliminating); AltName: Full=Methylmalonic aciduria and homocystinuria type C protein; Short=MMACHC
gi|85681045|sp|Q9Y4U1.3|MMAC_HUMAN

Protein

Your browsing activity is empty.

Activity recording is turned off.

Protein