MMADHC

MMADHC

Available structures

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)^[1]

Band	2q23.2	Start	149,569,637 bp^[1]
Band	2q23.2	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]
Band	2\|2 C1.1	End	50,186,813 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

palpebral conjunctiva

amniotic fluid

biceps brachii

vastus lateralis muscle

parotid gland

parietal pleura

oral cavity

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

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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000168288 – Ensembl, May 2017
^ ^a ^b ^c 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.
^ ^a ^b 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.

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

Metabolism of vitamins, coenzymes, and cofactors

Fat soluble vitamins

Vitamin A	Retinol binding protein
Vitamin E	Alpha-tocopherol transfer protein
Vitamin D	liver (Sterol 27-hydroxylase or CYP27A1) renal (25-Hydroxyvitamin D₃ 1-alpha-hydroxylase or CYP27B1) degradation (1,25-Dihydroxyvitamin D₃ 24-hydroxylase or CYP24A1)
Vitamin K	Vitamin K epoxide reductase