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34 ACADM

34

ACADM

acyl-CoA dehydrogenase medium chain

protein-coding

Homo sapiens

基因描述

Type Description
Definition acyl-CoA dehydrogenase medium chain

研究结论

Date Results Publications
2020-01-04 11:01:00 In six unrelated Chinese patients with medium-chain acyl-coenzyme A dehydrogenase deficiency, six mutations were found in acyl-CoA dehydrogenase medium chain (ACADM). One mutation (c.727C>T) was novel and the others (c.158G>A, c.387+1delG, c.449_452del, c.1045C>T, and c.1085G>A) have been previously reported. 31033143
2017-12-16 11:34:00 Our study has revealed the unique genetic backgrounds of MCAD deficiency among Japanese, based on the largest series of non-Caucasian cases. 27856190
2017-12-09 12:16:00 17 VUS (37%; 7 in ACADM, 9 in GALT, and 1 in PAH) were reclassified from uncertain (6 to benign or likely benign and 11 to pathogenic or likely pathogenic). We identified common types of missing information that would have helped make a definitive classification and categorized this information by ease and cost to obtain 27308838
2017-12-09 11:15:00 Subjects with neonatal symptoms, or neonatal abnormal labs, or neonatal triggers were more likely to have at least one copy of the severe c.985A>G ACADM gene mutation 27477829
2017-09-16 10:40:00 Exclusively breastfed neonates with MCAD are at risk for early metabolic decompensation. As breastfeeding rates increase, close management of feeding difficulties is essential for all neonates awaiting newborn screening results 27148938

名称对应

Type IDs
Synonymous ACAD1, MCAD, MCADH
Gene
UniProtKB-ID: ACADM_HUMAN, Q5HYG7_HUMAN, B4DJE7_HUMAN, Q5T4U5_HUMAN, A0A0S2Z366_HUMAN, B7Z9I1_HUMAN
UniprotKB: P11310, Q5HYG7, B4DJE7, Q5T4U5, A0A0S2Z366, B7Z9I1
UniParc: UPI0000EE3287, UPI00017A7200, UPI00004C4141, UPI000191545D, UPI00001251E6, UPI0000470C0B
EMBL: AK312629, M91429, M16827, AF251043, M91423, BX647734, M60505, M91425, CH471059, M91428, M91430, KU177876, M91427, M91422, AL357314, M91431, BC005377, M91421, AK315946, HM005320, M91432, M91426, AK296045
Ensembl: ENSG00000117054
KO: hsa:34
Nucleutide sequences
EMBL-CDS: AAA59567.1, BAG35514.1, AAF63626.1, AAH05377.1, EAX06401.1, AAB59625.1, AAA51566.1, CAI45986.1, BAG58809.1, EAX06399.1, AEE60920.1, ALQ33334.1, BAH14317.1
Gene_ORFName: hCG_22915
Ensembl_TRS: ENST00000370841, ENST00000420607, ENST00000370834, ENST00000541113
Protein sequencees
Ensembl_PRO: ENSP00000359878, ENSP00000409612, ENSP00000359871, ENSP00000442324
RefSeq: NP_000007.1, NP_001272972.1, NP_001272971.1, NP_001272973.1, NP_001120800.1
Others
UniRef100: UniRef100_P11310, UniRef100_Q5T4U5, UniRef100_Q5HYG7, UniRef100_A0A2I2ZU87, UniRef100_B7Z9I1
UniRef90: UniRef90_B7Z9I1, UniRef90_Q5T4U5, UniRef90_P11310
UniRef50: UniRef50_B7Z9I1, UniRef50_Q5T4U5, UniRef50_P11310
UniGene: Hs.445040
CCDS: CCDS44165.1, CCDS668.1

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