> Methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria (MMADHC)
NCBI UniGene banner graphic
PubMed Nucleotide Protein Genome Structure Popset Taxonomy
 Search
NCBI

UniGene
Homepage
FAQs
Help
Query Tips
Build Info
Library Browser
DDD
Download UniGene

Related Databases
Gene
HomoloGene
EST
SRA

NIH cDNA Projects
MGC | ZGC | XGC
Finding cDNAs
UGID:131662     UniGene Hs.5324     Homo sapiens (human)   MMADHC Order cDNA clone, Links
Methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria (MMADHC)

Human protein-coding gene MMADHC. Represented by 1474 ESTs from 306 cDNA libraries. Corresponds to reference sequence NM_015702.2. [UniGene 131662 - Hs.5324]

SELECTED PROTEIN SIMILARITIES
Comparison of cluster transcripts with RefSeq proteins. The alignments can suggest function of the cluster.
Best Hits and Hits from model organismsSpeciesId(%)Len(aa)
XP_001135306.1 PREDICTED: methylmalonic aciduria and homocystinuria type D protein, mitochondrial isoform 3 P. troglodytes 100.0 295
NP_056517.1 MMADHC gene product H. sapiens 100.0 295
NP_598600.1 Mmadhc gene product M. musculus 95.3 295
NP_001089489.1 methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria X. laevis 80.7 296
NP_001002453.1 zgc:92335 gene product D. rerio 59.1 286
NP_499801.1 Protein Y76A2B.5 C. elegans 47.9 163
Other hits (2 of 27) [Show all]SpeciesId(%)Len(aa)
XP_001082223.1 PREDICTED: methylmalonic aciduria and homocystinuria type D protein, mitochondrial isoform 2 M. mulatta 99.3 295
XP_003907515.1 PREDICTED: methylmalonic aciduria and homocystinuria type D protein, mitochondrial P. anubis 99.3 295

GENE EXPRESSION
Tissues and development stages from this gene's sequences survey gene expression. Links to other NCBI expression resources.
EST Profile: Approximate expression patterns inferred from EST sources.
[Show more entries with profiles like this]
GEO Profiles: Experimental gene expression data (Gene Expression Omnibus).
cDNA Sources: brain; skin; testis; bone marrow; bladder; kidney; mixed; muscle; vascular; esophagus; salivary gland; intestine; prostate; placenta; liver; mammary gland; lung; ascites; blood; ear; uterus; embryonic tissue; lymph; pharynx; trachea; tonsil; uncharacterized tissue; pancreas; lymph node; bone; spleen; heart; cervix; connective tissue; eye; umbilical cord; thymus; stomach; ovary; pituitary gland; parathyroid; adipose tissue; mouth; adrenal gland; nerve
MAPPING POSITION
Genomic location specified by transcript mapping, radiation hybrid mapping, genetic mapping or cytogenetic mapping.
Chromosome: 2
Map position: 2q23.2
UniSTS entry: Chr 2 D2S2131
UniSTS entry: Chr 2 RH12678 [Map Viewer]
SEQUENCES
Sequences representing this gene; mRNAs, ESTs, and gene predictions supported by transcribed sequences.

mRNA sequences (10)

AF131802.1 Homo sapiens clone 25022 mRNA sequence, complete cds PA
NM_015702.2 Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria (MMADHC), nuclear gene encoding mitochondrial protein, mRNA PA
BC000932.2 Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria, mRNA (cDNA clone MGC:4901 IMAGE:3446713), complete cds PA
AF060224.1 Homo sapiens clone 010b06 My011 protein mRNA, complete cds P
BC010894.1 Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria, mRNA (cDNA clone MGC:13355 IMAGE:4246499), complete cds PA
AK313284.1 Homo sapiens cDNA, FLJ93796 P
AK310001.1 Homo sapiens cDNA, FLJ17043 P
BC023995.1 Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria, mRNA (cDNA clone MGC:24534 IMAGE:4103877), complete cds PA
BC022859.1 Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria, mRNA (cDNA clone MGC:22822 IMAGE:3826071), complete cds PA
AF161510.1 Homo sapiens HSPC161 mRNA, complete cds PA

EST sequences (10 of 1474) [Show all sequences]

AI032241.1 Clone IMAGE:1603754 lung 3' read P
AI042031.1 Clone IMAGE:1660698 mixed 3' read A
AI042155.1 Clone IMAGE:1667992 parathyroid 3' read PA
AI080117.1 Clone IMAGE:1677414 mixed 3' read A
AI080383.1 Clone IMAGE:1662728 mixed 3' read A
AI081653.1 Clone IMAGE:1632488 mammary gland 3' read A
AI140461.1 Clone IMAGE:1688949 mixed 3' read
BX108243.1 Clone IMAGp998D13403_;_IMAGE:207324 mixed P
AI261294.1 Clone IMAGE:2028577 kidney 3' read P
CB145333.1 Clone L16HLK3-19-H03 liver 5' read P


Key to Symbols

P Has similarity to known Proteins (after translation)
A Contains a poly-Adenylation signal
S Sequence is a Suboptimal member of this cluster
M Clone is putatively CDS-complete by MGC criteria

 
NLM | NIH | UniGene | Privacy Statement | Disclaimer | NCBI Help