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; OMA:MMADHC - orthologs
Gene location (Human) Chr. Chromosome 2 (human) [1] Band 2q23.2 Start 149,569,637 bp [1] End 149,587,778 bp [1]
Gene location (Mouse) Chr. Chromosome 2 (mouse) [2] Band 2|2 C1.1 Start 50,169,893 bp [2] End 50,186,813 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in palpebral conjunctiva epithelium of nasopharynx amniotic fluid Skeletal muscle tissue of rectus abdominis biceps brachii vastus lateralis muscle parotid gland Skeletal muscle tissue of biceps brachii parietal pleura oral cavity 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 BioGPS n/a
Gene ontology Molecular function protein binding Cellular component cytosol mitochondrion cytoplasm Biological process cobalamin metabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 27249 109129 Ensembl ENSG00000168288 ENSMUSG00000026766 UniProt Q9H3L0 Q99LS1 RefSeq (mRNA) NM_015702 NM_133839 NM_001348198 NM_001348199 NM_001348200 RefSeq (protein) NP_056517 NP_598600 NP_001335127 NP_001335128 NP_001335129 Location (UCSC) Chr 2: 149.57 – 149.59 Mb Chr 2: 50.17 – 50.19 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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]

References

1. GRCh38: Ensembl release 89: ENSG00000168288 – Ensembl, May 2017
2. 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.
5. 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.
6. "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)

Further reading

• 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.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.