MMADHC

MMADHC
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	5CUZ, 5CV0
Identifiers
Aliases	MMADHC , C2orf25, CL25022, cblD, methylmalonic aciduria and homocystinuria, cblD type, metabolism of cobalamin associated D
External IDs	OMIM: 611935 MGI: 1923786 HomoloGene: 9248 GeneCards: MMADHC
Gene location (Human)
Chr.	Chromosome 2 (human)
End	149,587,778 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	50,186,813 bp
RNA expression pattern
	Top expressed in
	palpebral conjunctiva; ; amniotic fluid; ; biceps brachii; ; vastus lateralis muscle; ; parotid gland; ; parietal pleura; ; cavity of mouth; ; deltoid muscle; ; body of tongue; ; thoracic diaphragm;
	Top expressed in
	interventricular septum; ; temporal muscle; ; digastric muscle; ; seminiferous tubule; ; sternocleidomastoid muscle; ; soleus muscle; ; vastus lateralis muscle; ; extraocular muscle; ; spermatid; ; triceps brachii muscle;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding ;
Cellular component	cytosol ; mitochondrion ; cytoplasm ;
Biological process	cobalamin metabolic process ;
	Sources:Amigo / QuickGO
Orthologs
	27249
	109129
	ENSG00000168288
	ENSMUSG00000026766
	Q9H3L0
	Q99LS1
	NM_015702
	NM_133839 ; NM_001348198 ; NM_001348199 ; NM_001348200
	NP_056517
	NP_598600 ; NP_001335127 ; NP_001335128 ; NP_001335129
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated August 19, 2023

Methylmalonic aciduria and homocystinuria type D protein, mitochondrial also known as MMADHC is a protein that in humans is encoded by the MMADHC gene.^[5]

Function

This gene encodes a protein localized in cytosol and mitochondria that is involved in an early step of vitamin B₁₂ metabolism. Vitamin B₁₂ (cobalamin) is essential for normal development and survival in humans.^[6]

Clinical significance

Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin.^[5]

Related Research Articles

Methylmalonic acidemia, also called methylmalonic aciduria, is an autosomal recessive metabolic disorder that disrupts normal amino acid metabolism. It is a classical type of organic acidemia. The result of this condition is the inability to properly digest specific fats and proteins, which in turn leads to a buildup of a toxic level of methylmalonic acid in the blood.

Methylmalonyl-CoA mutase (EC 5.4.99.2, MCM), mitochondrial, also known as methylmalonyl-CoA isomerase, is a protein that in humans is encoded by the MUT gene. This vitamin B₁₂-dependent enzyme catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA in humans. Mutations in MUT gene may lead to various types of methylmalonic aciduria.

Methionine synthase reductase, also known as MSR, is an enzyme that in humans is encoded by the MTRR gene.

Pyridoxal kinase is an enzyme that in humans is encoded by the PDXK gene.

Sodium-coupled neutral amino acid transporter 3 is a protein that in humans is encoded by the SLC38A3 gene.

Optic atrophy 3 protein is a protein that in humans is encoded by the OPA3 gene.

D-2-hydroxyglutarate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the D2HGDH gene.

CD320 is a human gene.

SCAN domain-containing protein 3 is a protein that in humans is encoded by the SCAND3 gene.

Zinc finger protein 346 is a protein that in humans is encoded by the ZNF346 gene.

Serine/threonine-protein kinase 40 is an enzyme that in humans is encoded by the STK40 gene.

Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial is an enzyme that in humans is encoded by the MMAB gene.

Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial is a protein that in humans is encoded by the COQ4 gene.

Probable lysosomal cobalamin transporter is a protein that in humans is encoded by the LMBRD1 gene.

TOX4 also known as KIAA0737, is a human gene.

Proline synthetase co-transcribed bacterial homolog protein is a protein that in humans is encoded by the PROSC gene.

Dipeptidase 3 (DPEP3) is a protein that in humans is encoded by the DPEP3 gene.

CYP4X1 is a protein which in humans is encoded by the CYP4X1 gene.

Methylmalonic aciduria type A protein, mitochondrial also known as MMAA is a protein that in humans is encoded by the MMAA gene.

Methylmalonic aciduria and homocystinuria type C protein (MMACHC) is a protein that in humans is encoded by the MMACHC gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000168288 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000026766 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
1 2 Coelho D, Suormala T, Stucki M, Lerner-Ellis JP, Rosenblatt DS, Newbold RF, Baumgartner MR, Fowler B (April 2008). "Gene identification for the cblD defect of vitamin B₁₂ metabolism". N. Engl. J. Med. 358 (14): 1454–64. doi: 10.1056/NEJMoa072200 . PMID 18385497. S2CID 15107040.
↑ "Entrez Gene: MMADHC Methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria".

External links

GeneReviews/NCBI/NIH/UW entry on Disorders of Intracellular Cobalamin Metabolism
PDBe-KB provides an overview of all the structure information available in the PDB for Human Methylmalonic aciduria and homocystinuria type D protein, mitochondrial (MMADHC)

Yu W, Andersson B, Worley KC, et al. (1997). "Large-Scale Concatenation cDNA Sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146 . PMID 9110174.
Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC 139241 . PMID 12477932.
Hillier LW, Graves TA, Fulton RS, et al. (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4". Nature. 434 (7034): 724–31. Bibcode:2005Natur.434..724H. doi: 10.1038/nature03466 . PMID 15815621.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928 . PMID 15489334.
Zhang QH, Ye M, Wu XY, et al. (2000). "Cloning and Functional Analysis of cDNAs with Open Reading Frames for 300 Previously Undefined Genes Expressed in CD34+ Hematopoietic Stem/Progenitor Cells". Genome Res. 10 (10): 1546–60. doi:10.1101/gr.140200. PMC 310934 . PMID 11042152.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000168288 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000026766 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid18385497-5] 1 2 Coelho D, Suormala T, Stucki M, Lerner-Ellis JP, Rosenblatt DS, Newbold RF, Baumgartner MR, Fowler B (April 2008). "Gene identification for the cblD defect of vitamin B₁₂ metabolism". N. Engl. J. Med. 358 (14): 1454–64. doi: 10.1056/NEJMoa072200 . PMID 18385497. S2CID 15107040.

[entrez-6] "Entrez Gene: MMADHC Methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria".

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