| Nomenclature | Genomic Location |
| Symbol | Mmaa | Chromosome | 1 |
| Name | Methylmalonic aciduria,
Vitamin B12-Responsive | Linkage map | unknown |
| Species | Dracomimus familiaris | Genome Coordinates | 1: 11 Mbp |
| Molecular Function |
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Probable GTPase. May function as chaperone. May be involved in the transport of cobalamin (Cbl) into mitochondria for the final steps of adenosylcobalamin (AdoCbl) synthesis
Molecular Function Terms:
binding
nucleotide binding
purine nucleotide binding
guanyl nucleotide binding
guanyl ribonucleotide binding
GTP binding
catalytic activity
hydrolase activity
hydrolase activity, acting on acid anhydrides
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides
pyrophosphatase activity
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| Human Disease Association |
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Defects in MMAA are the cause of methylmalonic aciduria type cblA (MMAA) [MIM:251100]; also known
as methylmalonic aciduria type A or vitamin B12-responsive methylmalonicaciduria of cblA
complementation type. MMAA is a disorder of methylmalonate and cobalamin metabolism due to
defective synthesis of adenosylcobalamin. Inheritance is autosomal recessive.
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1 ATGAATGGATCATCACTACTGCGACAATTTCCTCTCTCCCATTTTCTCAAAAATAATCGG
61 AAGCCTTTGAAGAATTTCTGTTGGAGGTCCAGCACTCTGCCTGTTTTCCCATGTGGCCAG
121 CAGGCTGACTTGCTTCCGTTGTGCCGTTCAAGGAGGATCCTGCCTTTGAAGGGTCTGAAG
181 ACTGGGCCCTGTCACCCAGCAGCGTTAGAGCAGCAGGCTTGGGAGCTCTCCCACAAAGAG
241 CAAAGACTGCTAGACAGACTGTACAATGGACTCATCCAAGGACACAGGGCCTGCTTGGCT
301 GAAGCCATTACTCTCATAGAATCCACCCAGAGCCGGAAGAAAGACATTGCGCAGGTGCTC
361 CTTCAGAAGGTACTATCCTACCACAGAGAACAAGAGCAGTTAAATAAAGGAAAACCACTA
421 GCCTTTAGAGTGGGATTGTCTGGCCCTCCTGGTGCTGGGAAATCGACATTTATTGAAGGC
481 TTTGGGAAAATGCTCACCGAAAGAGGACATAAGGTGTCTGTGTTGGCAGTGGACCCATCT
541 TCAAGCACTAGTGGTGGCTCTCTCTTGGGTGATAAGACGCGAATGACAGAGTTGTCAAGA
601 GACATGAATGCTTACATCAGGCCGTCTCCAACCAGAGGGACGCTAGGTGGGGTGACGCGG
661 ACCACGAATGAGGCCATTCTGTTGTGCGAAGCAGGAGGCTATGACATTGTTCTTGTCGAA
721 ACAGTAGGTGTGGGGCAGTCGGAGTTTGCTGTTGCCGATATGGTGGATATGTTTGTATTG
781 CTGCTGCCACCAGCAGGAGGTGACGAGTTGCAGGGTATCAAACGAGGTATAATTGAGATG
841 GCAGATCTCGTTGCAGTAACCAAAGCTGATGGAGATCTCGTGGTGCCAGCGCGGAGGATT
901 CAAGCCGAATACGTCAGTGCTCTGAAATTGCTCCGCAAACGTTCAAAGGTTTGGAGGCCA
961 AAGGTCATGCGGATCTCTGCCAAAACTGGAGAAGGCATCACTGACATATGGGATAACATG
1021 ATCGAATTCCGAGAACTCATGCTCACAAGCGGCGAGTTGCTCACCAAGCGAAAGAGGCAG
1081 CAGAAAGTGTGGATGTGGAATGTAATCCAAGAAAGTATGCTGTATCATTTCCGGAGTCAC
1141 TCGGCCGTGAGAGATCAGATTCCCCTTCTGGAAGGAAAAGTTGTCAGTGGAATTCTTTCT
1201 CCTGGACTGGCTGCAGACCTATTGCTCAAAGCCTTTAAAACCAGAAGTGAC
| Predicted Protein Product |
MNGSSLLRQFPLSHFLKNNRKPLKNFCWRSSTLPVFPCGQQADLLPLCRSRRILPLKGLK
TGPCHPAALEQQAWELSHKEQRLLDRLYNGLIQGHRACLAEAITLIESTQSRKKDIAQVL
LQKVLSYHREQEQLNKGKPLAFRVGLSGPPGAGKSTFIEGFGKMLTERGHKVSVLAVDPS
SSTSGGSLLGDKTRMTELSRDMNAYIRPSPTRGTLGGVTRTTNEAILLCEAGGYDIVLVE
TVGVGQSEFAVADMVDMFVLLLPPAGGDELQGIKRGIIEMADLVAVTKADGDLVVPARRI
QAEYVSALKLLRKRSKVWRPKVMRISAKTGEGITDIWDNMIEFRELMLTSGELLTKRKRQ
QKVWMWNVIQESMLYHFRSHSAVRDQIPLLEGKVVSGILSPGLAADLLLKAFKTRSD
| Protein Alignment to Mouse |
sp|Q8C7H1|MMAA_MOUSE Methylmalonic aciduria type A homolog, mitochondrial
OS=Mus musculus GN=Mmaa PE=2 SV=1
MGI:1923805 Mmaa methylmalonic aciduria (cobalamin deficiency) type A (Chr 8)
Length = 415
Score = 1318 (469.0 bits), Expect = 3.2e-135, P = 3.2e-135
Identities = 255/366 (69%), Positives = 300/366 (81%)
Query: 50 SRRILPLKGLKTGPCHPAALEQQAWELSHKEQRLLDRLYNGLIQGHRACLAEAITLIEST 109
++R+L G + C A L+ LS KEQR +DRLY GL++G RACLAEAITL+EST
Sbjct: 49 TKRVLLSDGFRRTLCVQATLKDHTEGLSDKEQRFVDRLYTGLVKGQRACLAEAITLVEST 108
Query: 110 QSRKKDIAQVLLQKVLSYHREQEQLNKGKPLAFRVGLSGPPGAGKSTFIEGFGKMLTERG 169
+RK+++AQVLLQ+VL+ REQE N+GKPL FRVGLSGPPGAGKSTFIE FGKMLTE+G
Sbjct: 109 HTRKRELAQVLLQRVLALQREQELRNQGKPLTFRVGLSGPPGAGKSTFIECFGKMLTEQG 168
Query: 170 HKVSVLAVDPXXXXXXXXXXXDKTRMTELSRDMNAYIRPSPXXXXXXXXXXXXNEAILLC 229
H++SVLAVDP DKTRM ELSRDMNAYIRPSP NEAI+LC
Sbjct: 169 HRLSVLAVDPSSCTSGGSLLGDKTRMIELSRDMNAYIRPSPTSGTLGGVTRTTNEAIVLC 228
Query: 230 EAGGYDIVLVETVGVGQSEFAVADMVDMFVLLLPPAGGDELQGIKRGIIEMADLVAVTKA 289
E GGYDI+L+ETVGVGQSEFAVADMVDMFVLLLPPAGGDELQGIKRGIIEMADLV +TK+
Sbjct: 229 EGGGYDIILIETVGVGQSEFAVADMVDMFVLLLPPAGGDELQGIKRGIIEMADLVVITKS 288
Query: 290 DGDLVVPARRIQAEYVSALKLLRKRSKVWRPKVMRISAKTGEGITDIWDNMIEFRELMLT 349
DGDL+VPARRIQAEYVSALKLLR+RS+VWRPKV+RISA++GEGIT++WD M EF+ ML
Sbjct: 289 DGDLIVPARRIQAEYVSALKLLRRRSEVWRPKVIRISARSGEGITEMWDTMREFQHQMLA 348
Query: 350 SGELLTKRKRQQKVWMWNVIQESMLYHFRSHSAVRDQIPLLEGKVVSGILSPGLAADLLL 409
SGEL KR+ Q KVWMWN+IQE++L HF++H ++R+QIPL+E KV+SG LSPG AADLLL
Sbjct: 349 SGELAAKRQTQHKVWMWNLIQENVLEHFKTHPSIREQIPLMERKVLSGALSPGRAADLLL 408
Query: 410 KAFKTR 415
KAFK+R
Sbjct: 409 KAFKSR 414
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