ALFRED: allele frequency database

The ALlele FREquency Database
ALFRED is a resource of gene frequency data on human populations
supported by the U. S. National Science Foundation.

ALFRED detailed record information

Locus Information

Name	ALFRED UID	Locus Symbol	Chromosome	Band Position
Propionyl Coenzyme A carboxylase, alpha polypeptide	LO000683R	PCCA	13	q32

Synonyms:
Sites List: See Sites List
External Resources: Entrez Gene Locus Information OMIM Locus Description GenBank mRNA Sequence UniGene GDB Gene Information PharmGKB Gene Information
References: See References
Locus Description: Propionyl-CoA carboxylase (PCC, EC 6.4.1.3) is a mitochondrial, biotin-dependent enzyme that functions in the catabolism of branched-chain amino acids, fatty acids with odd-numbered chain lengths, and other metabolites. Propionyl-CoA carboxylase (PCC), comprised of alpha and beta subunits, catalyzes the first step in the catabolism of propionyl-CoA. PCC is composed of 2 nonidentical subunits, alpha and beta. The alpha subunit is encoded by the PCCA gene and the beta subunit by the PCCB gene . By Southern blot analysis of somatic cell hybrids, Lamhonwah et al. (1983) mapped the PCCA gene to chromosome 13. By the study of dosage effect in cell cultures obtained from patients with different deletions of chromosome 13, Kennerknecht et al. (1990) assigned the PCCA locus to 13q32. Mutations in either PCCA or PCCB lead to an enzyme deficiency resulting in propionic acidemia. The structure of the gene and the mutations causing Propionic Acidemia are detailed in Campeau et al. (PMID: 11592820).
Sites within this locus ordered by their chromosomal position in the 37.3 NCBI build:

Site Name (Navigates to ALFRED description)	dbSNP rs# (Navigates to dbSNP reference page)	Chr-Position	# Populations typed
rs12019900	rs12019900	99634718	51
rs11069395	rs11069395	99901515	50
rs7335993	rs7335993	100739135	51
rs2043347	rs2043347	100743318	51
rs9557378	rs9557378	100747566	51
rs6491544	rs6491544	100751208	51
rs11069390	rs11069390	100760682	50
rs4772265	rs4772265	100763790	50
rs9585352	rs9585352	100776268	50
rs7326758	rs7326758	100781445	50
rs1890139	rs1890139	100782092	51
rs9513731	rs9513731	100786657	50
rs6491545	rs6491545	100792734	50
rs9585363	rs9585363	100794602	51
rs9300591	rs9300591	100800303	50
rs2390401	rs2390401	100805797	51
rs1556799	rs1556799	100812855	51
rs9518013	rs9518013	100813484	51
rs17196569	rs17196569	100816862	50
rs2152881	rs2152881	100817995	51
rs3949482	rs3949482	100823390	51
rs9518015	rs9518015	100827660	51
rs4772269	rs4772269	100830307	51
rs9585372	rs9585372	100836540	50
rs7997125	rs7997125	100839314	50
rs9518023	rs9518023	100844948	51
rs4772270	rs4772270	100847230	51
rs2039677	rs2039677	100849257	50
rs13378764	rs13378764	100853824	51
rs7319383	rs7319383	100858018	50
rs945884	rs945884	100862964	50
rs684215	rs684215	100873945	51
rs9582378	rs9582378	100878484	50
rs7318781	rs7318781	100878820	51
rs569393	rs569393	100889229	50
rs4771358	rs4771358	100896038	51
rs681561	rs681561	100898529	51
rs6491555	rs6491555	100903542	51
rs7492217	rs7492217	100911967	50
rs4306370	rs4306370	100921056	50
rs17474996	rs17474996	100931498	50
rs12431036	rs12431036	100932430	51
C__28038231_10	rs4772278	100934275	47
rs9300597	rs9300597	100942854	50
rs8002928	rs8002928	100945603	51
C___1805324_20	rs1000160	100950452	47
rs16957301	rs16957301	100976562	51
rs12874460	rs12874460	100996914	51
rs1888839	rs1888839	101002920	51
rs9585410	rs9585410	101009454	51
rs1889681	rs1889681	101016517	50
rs9585416	rs9585416	101019628	50
rs2253446	rs2253446	101036028	51
rs9554684	rs9554684	101040056	51
rs2760306	rs2760306	101043671	51
rs17491680	rs17491680	101048288	50
rs9557426	rs9557426	101055488	50
rs2484360	rs2484360	101062997	50
rs2783209	rs2783209	101065575	50
rs7991251	rs7991251	101070423	50
rs12431159	rs12431159	101075864	51
rs2783230	rs2783230	101083143	50
rs767281	rs767281	101086968	51
rs2783224	rs2783224	101092201	51
rs1407761	rs1407761	101095827	51
rs1283290	rs1283290	101109686	50
rs16957441	rs16957441	101110241	50
rs7981517	rs7981517	101112917	50
rs1297355	rs1297355	101114766	51
rs11069396	rs11069396	101115086	50
rs9585440	rs9585440	101118865	51
rs9300605	rs9300605	101119967	50
rs3783171	rs3783171	101124320	51
rs958424	rs958424	101125831	14
rs7997468	rs7997468	101127678	50
rs2038672	rs2038672	101134343	50
rs9554689	rs9554689	101135491	50
rs3825505	rs3825505	101135742	51
rs9518080	rs9518080	101138776	50
rs17493763	rs17493763	101141871	50
rs3742245	rs3742245	101142329	51
rs4772299	rs4772299	101147019	51
rs12864917	rs12864917	101148172	50
rs10492559	rs10492559	101151134	51
rs837284	rs837284	101166886	50
rs837286	rs837286	101167993	50
rs4772302	rs4772302	101170433	51
rs837322	rs837322	101173401	51

References:
- Campeau E, Desviat LR, Leclerc D, Wu X, Perez B, Ugarte M, Gravel RA. "Structure of the PCCA gene and distribution of mutations causing propionic acidemia". Mol Genet Metab. 74:238-47. (2001) Online citation.

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© 2012 Kenneth K Kidd, Yale University. All rights reserved. The full Copyright Notification is also available.
Originally prototyped by Michael Osier with the aid of Kei Cheung
Upgrades and maintenance since 2002 by Haseena Rajeevan